US 6903120B2
· Sonesson
· 2005
[cited by applicant]
US 7417043B2
· Sonesson
· 2008
[cited by applicant]
US 7923459B2
· Gauthier et al.
· 2011
[cited by applicant]
US 9006445B2
· Sonesson et al.
· 2015
[cited by applicant]
US 9012476B2
· Zimmermann et al.
· 2015
[cited by applicant]
US 9139525B2
· Wikstrom
· 2015
[cited by applicant]
US RE46117E
· Sonesson et al.
· 2016
[cited by applicant]
US 9796673B2
· Wu et al.
· 2017
[cited by applicant]
US 9814706B2
· Zimmermann et al.
· 2017
[cited by applicant]
US 20130197031A1
· Sonesson
· 2013
[cited by applicant]
US 20130267552A1
· Waters
· 2013
[cited by applicant]
US 20140024677A1
· Schnellmann
· 2014
[cited by examiner]
US 20140088145A1
· Hayden
· 2014
[cited by examiner]
US 20150202302A1
· Licht
· 2015
[cited by applicant]
US 20150374677A1
· Schmidt
· 2015
[cited by examiner]
US 20160095847A1
· Sonesson
· 2016
[cited by applicant]
US 20160166559A1
· Sonesson
· 2016
[cited by applicant]
US 20170020854A1
· Licht
· 2017
[cited by examiner]
US 20170266170A1
· Waters
· 2017
[cited by applicant]
US 20180235950A1
· Sonesson
· 2018
[cited by applicant]
US 20190209542A1
· Bassan
· 2019
[cited by applicant]
US 20190231768A1
· Geva
· 2019
[cited by applicant]
WO WO2001046145
· 2001
[cited by applicant]
WO WO2006040155
· 2006
[cited by applicant]
WO WO2008127188
· 2008
[cited by applicant]
WO WO2012002863
· 2012
[cited by applicant]
WO WO2013034622
· 2013
[cited by applicant]
WO WO2013086425
· 2013
[cited by applicant]
WO WO2013152105
· 2013
[cited by applicant]
WO WO2014205229
· 2014
[cited by applicant]
WO WO2015112601
· 2015
[cited by applicant]
WO WO2016003919
· 2016
[cited by applicant]
WO WO2016138130
· 2016
[cited by applicant]
WO WO2016138135
· 2016
[cited by applicant]
WO WO2017015609
· 2017
[cited by applicant]
WO WO2017015615
· 2017
[cited by applicant]
WO WO2017147366
· 2017
[cited by examiner]
WO WO2018039475
· 2018
[cited by applicant]
WO WO2018039477
· 2018
[cited by applicant]
WO WO2018053275
· 2018
[cited by applicant]
WO WO2018053280
· 2018
[cited by applicant]
WO WO2018053287
· 2018
[cited by applicant]
WO WO2018136600
· 2018
[cited by applicant]
WO WO2018200323
· 2018
[cited by applicant]
WO WO2018207192
· 2018
[cited by applicant]
WO WO2019036358
· 2019
[cited by applicant]
WO WO2019046568
· 2019
[cited by applicant]
WO WO2019050775
· 2019
[cited by applicant]
Yannai et. al. (BioRxiv (Jan. 19, 2019) 1-23). (Year: 2019).
[cited by examiner]
Al-Saif, A. et al. (2011). A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. Annals of neurology, 70(6), 913-919.
[cited by applicant]
Area-Gomez, E. et al. (2012). Upregulated function of mitochondria-associated ER membranes in Alzheimer disease. The EMBO journal, 31(21), 4106-4123.
[cited by applicant]
Avezov, E. et al. (2008). Endoplasmic reticulum (ER) mannosidase I is compartmentalized and required for N-glycan trimming to Man5-6GlcNAc2 in glycoprotein ER-associated degradation. Molecular biology of the cell, 19(1)…
[cited by applicant]
Basso, V. et al. (2018). Regulation of ER-mitochondria contacts by Parkin via Mfn2. Pharmacological research, 138, 43-56.
[cited by applicant]
Benyair, R. et al. (2015, May). Glycan regulation of ER-associated degradation through compartmentalization. In Seminars in cell & developmental biology (vol. 41, pp. 99-109). Academic Press.
[cited by applicant]
Berge, S. M. et al. (1977). Pharmaceutical salts. Journal of pharmaceutical sciences, 66(1), 1-19.
[cited by applicant]
Bernard-Marissal, N. et al. (2015). Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration. Brain, 138(4), 875-890.
[cited by applicant]
Bernard-Marissal, N. et al. (2019). Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy. Proceedings of the National Academy of Sciences, 116(6), 2328-2337.
[cited by applicant]
Bolshakova, A. V. et al. (2017). Neuroprotective effect of σ1-receptors on the cell model of Huntington's disease. Bulletin of experimental biology and medicine, 164(2), 252-258.
[cited by applicant]
Branco-Santos, J. et al. (2017). Protein phosphatase 1 regulates huntingtin exon 1 aggregation and toxicity. Human molecular genetics, 26(19), 3763-3775.
[cited by applicant]
Brimson, J. M. et al. (2020). Using Sigma-ligands as part of a multi-receptor approach to target diseases of the brain. Expert Opinion on Therapeutic Targets, 24(10), 1009-1028.
[cited by applicant]
Carnemolla, A. et al. (2009). Rrs1 is involved in endoplasmic reticulum stress response in Huntington disease. Journal of Biological Chemistry, 284(27), 18167-18173.
[cited by applicant]
Caron, N. S. et al. (2018). Therapeutic approaches to Huntington disease: from the bench to the clinic. Nature Reviews Drug Discovery, 17(10), 729-750.
[cited by applicant]
Carri, A. D. et al. (2013). Human pluripotent stem cell differentiation into authentic striatal projection neurons. Stem cell reviews and reports, 9(4), 461-474.
[cited by applicant]
Cavendish, J. Z. et al. (2019). Mitochondrial Movement and Number Deficits in Embryonic Cortical Neurons from 3xTg-AD Mice. Journal of Alzheimer's Disease, 70(1), 139-151.
[cited by applicant]
Chambers, S. M. et al. (2009). Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling. Nature biotechnology, 27(3), 275-280.
[cited by applicant]
Chang, E. et al. (2008). Detection and quantification of tau aggregation using a membrane filter assay. Analytical biochemistry, 373(2), 330-336.
[cited by applicant]
Cherubini, M. et al. (2020). Mitochondrial fission in Huntington's disease mouse striatum disrupts ER-mitochondria contacts leading to disturbances in Ca2+ efflux and Reactive Oxygen Species (ROS) homeostasis. Neurobiol…
[cited by applicant]
Cho, K. J. et al. (2009). Inhibition of apoptosis signal-regulating kinase 1 reduces endoplasmic reticulum stress and nuclear huntingtin fragments in a mouse model of Huntington disease. Neuroscience, 163(4), 1128-1134.
[cited by applicant]
De Yebenes, J. G. et al. & MermaiHD study investigators. (2011). Pridopidine for the treatment of motor function in patients with Huntington's disease (MermaiHD): a phase 3, randomised, double-blind, placebo-controlled …
[cited by applicant]
Diaz-Vegas, A. R. et al. (2018). Mitochondrial calcium increase induced by RyR1 and IP3R channel activation after membrane depolarization regulates skeletal muscle metabolism. Frontiers in physiology, 9, 791.
[cited by applicant]
Dickinson, B. C. et al. (2013). Preparation and use of MitoPY1 for imaging hydrogen peroxide in mitochondria of live cells. Nature protocols, 8(6), 1249-1259.
[cited by applicant]
Duennwald, M. L. et al. (2008). Impaired ERAD and ER stress are early and specific events in polyglutamine toxicity. Genes & development, 22(23), 3308-3319.
[cited by applicant]
Dyhring, T. et al. (2010). The dopaminergic stabilizers pridopidine (ACR16) and (−)-OSU6162 display dopamine D2 receptor antagonism and fast receptor dissociation properties. European journal of pharmacology, 628(1-3), …
[cited by applicant]
Eddings, C. R. et al. (2019). Pridopidine protects neurons from mutant-huntingtin toxicity via the sigma-1 receptor. Neurobiology of disease, 129, 118-129.
[cited by applicant]
Ehrnhoefer, D. E. et al. (2018). HACE1 is essential for astrocyte mitochondrial function and influences Huntington disease phenotypes in vivo. Human molecular genetics, 27(2), 239-253.
[cited by applicant]
Ferreira, I. L. et al. (2018). Assessing mitochondrial function in in vitro and ex vivo models of Huntington's disease. In Huntington's Disease (pp. 415-442). Humana Press, New York, NY.
[cited by applicant]
Francardo, V. et al. (2014). Pharmacological stimulation of sigma-1 receptors has neurorestorative effects in experimental parkinsonism. Brain, 137(7), 1998-2014.
[cited by applicant]
Francardo, V. et al. (2019). Pridopidine induces functional neurorestoration via the sigma-1 receptor in a mouse model of Parkinson's disease. Neurotherapeutics, 16(2), 465-479.
[cited by applicant]
Fu, Z. X. et al. (2017). Dendritic mitoflash as a putative signal for stabilizing long-term synaptic plasticity. Nature communications, 8(1), 1-12.
[cited by applicant]
Fujimoto, M. et al. (2011). New insights into the role of mitochondria-associated endoplasmic reticulum membrane. International review of cell and molecular biology, 292, 73-117.
[cited by applicant]
Ganz, J. et al. (2020). A novel specific PERK activator reduces toxicity and extends survival in Huntington's disease models. Scientific reports, 10(1), 1-15.
[cited by applicant]
Garcia-Huerta, P. et al. (2020). Insulin-like growth factor 2 (IGF2) protects against Huntington's disease through the extracellular disposal of protein aggregates. Acta neuropathologica, 140(5), 737-764.
[cited by applicant]
Garcia-Miralles, M. et al. (2017). Early pridopidine treatment improves behavioral and transcriptional deficits in YAC128 Huntington disease mice. JCI insight, 2(23).
[cited by applicant]
Geva, M. et al. (2016). Pridopidine activates neuroprotective pathways impaired in Huntington Disease. Human molecular genetics, 25(18), 3975-3987.
[cited by applicant]
Gomez-Suaga, P. et al. (2019). The VAPB-PTPIP51 endoplasmic reticulum-mitochondria tethering proteins are present in neuronal synapses and regulate synaptic activity. Acta neuropathologica communications, 7(1), 1-13.
[cited by applicant]
Gregianin, E. et al. (2016). Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling. Human molecular genetics, 25(17), 3741-375…
[cited by applicant]
Gromek, K. A. et al. (2014). The oligomeric states of the purified sigma-1 receptor are Stabilized by ligands. Journal of Biological Chemistry, 289(29), 20333-20344.
[cited by applicant]
Hamilton, J. et al. (2015). Oxidative metabolism in YAC128 mouse model of Huntington's disease. Human molecular genetics, 24(17), 4862-4878.
[cited by applicant]
Hanner, M. et al. (1996). Purification, molecular cloning, and expression of the mammalian sigma1-binding site. Proceedings of the National Academy of Sciences, 93(15), 8072-8077.
[cited by applicant]
Hayashi, T. (2015). Sigma-1 receptor: the novel intracellular target of Neuropsychotherapeutic drugs. Journal of pharmacological sciences, 127(1), 2-5.
[cited by applicant]
Hayashi, T. et al. (2000). Ca2+ Signaling via ç1-Receptors: novel regulatory mechanism affecting intracellular Ca2+ concentration. Journal of Pharmacology and Experimental Therapeutics, 293(3), 788-798.
[cited by applicant]
Hayashi, T. et al. (2003) Sigma-1 receptors (sigma(1) binding sites) form raft-like microdomains and target lipid droplets on the endoplasmic reticulum: roles in endoplasmic reticulum lipid compartmentalization and expo…
[cited by applicant]
Hayashi, T. et al. (2007). Sigma-1 receptor chaperones at the ER-mitochondrion interface regulate Ca2+ signaling and cell survival. Cell, 131(3), 596-610.
[cited by applicant]
Hayashi, T. et al. (2009). MAM: more than just a housekeeper. Trends in cell biology, 19(2), 81-88.
[cited by applicant]
Hayashi, T. et al. (2010). Detergent-resistant microdomains determine the localization of σ-1 receptors to the endoplasmic reticulum-mitochondria junction. Molecular pharmacology, 77(4), 517-528.
[cited by applicant]
Hedskog, L. et al. (2013). Modulation of the endoplasmic reticulum-mitochondria interface in Alzheimer's disease and related models. Proceedings of the National Academy of Sciences, 110(19), 7916-7921.
[cited by applicant]
Herbert, A. D. et al. (2014). FindFoci: a focus detection algorithm with automated parameter training that closely matches human assignments, reduces human inconsistencies and increases speed of analysis. PloS one, 9(12…
[cited by applicant]
Herrera, F. et al. (2011). Visualization of cell-to-cell transmission of mutant Ihuntingtin oligomers. PLoS currents, 3.
[cited by applicant]
Hong, W. et al. (2004). Modulation of bradykinin-induced calcium changes in SH-SY5Y cells by neurosteroids and sigma receptor ligands via a shared mechanism. Synapse, 54(2), 102-110.
[cited by applicant]
Huntington Study Group HART Investigators. (2013). A randomized, double-blind, placebo-controlled trial of pridopidine in Huntington's disease. Movement Disorders, 28(10), 1407-1415.
[cited by applicant]
Hyrskyluoto, A. et al. (2013). Sigma-1 receptor agonist PRE084 is protective against mutant huntingtin-induced cell degeneration: involvement of calpastatin and the NF-κ B pathway. Cell death & disease, 4(5), e646-e646.
[cited by applicant]
International Search Report for PCT Application No. PCT/IL2020/050308 dated Jun. 21, 2020.
[cited by applicant]
Ionescu, A. et al. (2019). Targeting the sigma-1 receptor via pridopidine ameliorates central features of ALS pathology in a SOD1 G93A model. Cell death & disease, 10(3), 1-19.
[cited by applicant]
Izumi, Y. et al. (2018) Compound heterozygote mutations in the SIGMAR1 gene in an oldest-old patient with amyotrophic lateral sclerosis. Geriatr Gerontol Int 18, 1519-1520.
[cited by applicant]
Johnston, T. H. et al. (2019). Pridopidine, a clinic-ready compound, reduces 3, 4-dihydroxyphenylalanine-induced dyskinesia in Parkinsonian macaques. Movement Disorders, 34(5), 708-716.
[cited by applicant]
Kamhi-Nesher, S. et al. (2001). A novel quality control compartment derived from the endoplasmic reticulum. Molecular biology of the cell, 12(6), 1711-1723.
[cited by applicant]
Kawamata, H. et al. (2018). Correction: Proteinopathies and OXPHOS dysfunction in neurodegenerative diseases. Journal of Cell Biology, 217(1), 429-429.
[cited by applicant]
Kobayashi, T. et al. (1996). Enhancement of acetylcholine release by SA4503, a novel sigma 1 receptor agonist, in the rat brain. Journal of Pharmacology and Experimental Therapeutics, 279(1), 106-113.
[cited by applicant]
Kondratyev, M. et al. (2007). PERK-dependent compartmentalization of ERAD and unfolded protein response machineries during ER stress. Experimental cell research, 313(16), 3395-3407.
[cited by applicant]
Kourrich, S. et al. (2012). The sigma-1 receptor: roles in neuronal plasticity and disease. Trends in neurosciences, 35(12), 762-771.
[cited by applicant]
Kusko, R. et al. (2018). Large-scale transcriptomic analysis reveals that pridopidine reverses aberrant gene expression and activates neuroprotective pathways in the YAC128 HD mouse. Molecular neurodegeneration, 13(1), …
[cited by applicant]
Lajoie, P. et al. (2010). Formation and toxicity of soluble polyglutamine oligomers in living cells. PloS one, 5(12), e15245.
[cited by applicant]
Leal, N. S. et al. (2018). Alterations in mitochondria-endoplasmic reticulum connectivity in human brain biopsies from idiopathic normal pressure hydrocephalus patients. Acta neuropathologica communications, 6(1), 1-9.
[cited by applicant]
Leal, N. S. et al. (2020). Amyloid β-Peptide Increases Mitochondria-Endoplasmic Reticulum Contact Altering Mitochondrial Function and Autophagosome Formation in Alzheimer's Disease-Related Models. Cells, 9(12), 2552.
[cited by applicant]
Lee, K. S. et al. (2018). Altered ER-mitochondria contact impacts mitochondria calcium homeostasis and contributes to neurodegeneration in vivo in disease models. Proceedings of the National Academy of Sciences, 115(38)…
[cited by applicant]
Leitman, J. et al. (2013). Soluble forms of polyQ-expanded huntingtin rather than large aggregates cause endoplasmic reticulum stress. Nature communications, 4(1), 1-10.
[cited by applicant]
Leitman, J. et al. (2014). ER stress-induced elF2-alpha phosphorylation underlies sensitivity of striatal neurons to pathogenic huntingtin. PloS one, 9(3), e90803.
[cited by applicant]
Lewis, T. L. e tal. (2018). MFF-dependent mitochondrial fission regulates presynaptic release and axon branching by limiting axonal mitochondria size. Nature communications, 9(1), 1-15.
[cited by applicant]
Li, X. et al. (2015). A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy. Neurology, 84(24), 2430-2437.
[cited by applicant]
Lucas, G. et al. (2008). Further evidence for an antidepressant potential of the selective δ1 agonist SA 4503: electrophysiological, morphological and behavioural studies. International Journal of Neuropsychopharmacolog…
[cited by applicant]
Matsuno, K. et al. (1994). Ameliorating effects of σ receptor ligands on the impairment of passive avoidance tasks in mice: involvement in the central acetylcholinergicsystem. European journal of pharmacology, 261(1-2),…
[cited by applicant]
Matsuno, K. et al. (1997). SA4503, a novel cognitive enhancer, with σ1 receptor agonistic properties. Behavioural brain research, 83(1-2), 221-224.
[cited by applicant]
Maurice, T. (2001). Beneficial effect of the σ1 receptor agonist PRE-084 against the spatial learning deficits in aged rats. European journal of pharmacology, 431(2), 223-227.
[cited by applicant]
Maurice, T. (2020). Bi-phasic dose response in the preclinical and clinical developments of sigma-1 receptor ligands for the treatment of neurodegenerative disorders. Expert Opinion on Drug Discovery, 1-17.
[cited by applicant]
McGarry, A. et al. (2017). Safety and exploratory efficacy at 36 months in Open-HART, an open-label extension study of pridopidine in Huntington's disease. Journal of Huntington's disease, 6(3), 189-199.
[cited by applicant]
Miki, Y. et al. (2015). Sigma-1 receptor is involved in degradation of intranuclear inclusions in a cellular model of Huntington's disease. Neurobiology of disease, 74, 25-31.
[cited by applicant]
Mishina, M. et al. (2008). Low density of sigma 1 receptors in early Alzheimer's disease. Annals of nuclear medicine, 22(3), 151-156.
[cited by applicant]
Mitsuda, T. et al. (2011). Sigma-1Rs are upregulated via PERK/elF2α/ATF4 pathway and execute protective function in ER stress. Biochemical and biophysical research communications, 415(3), 519-525.
[cited by applicant]
Monnet, F. P. (2005). Sigma-1 receptor as regulator of neuronal intracellular Ca2+: clinical qand therapeutic relevance. Biology of the Cell, 97(12), 873-883.
[cited by applicant]
Monnet, F. P. et al. (1992). Neuropeptide Y potentiates the N-methyl-D-aspartate response in the CA3 dorsal hippocampus. II. Involvement of a subtype of sigma receptor. Journal of Pharmacology and Experimental Therapeut…
[cited by applicant]
Morris, G. et al. (2018). The endoplasmic reticulum stress response in neuroprogressive diseases: emerging pathophysiological role and translational implications. Molecular neurobiology, 55(12), 8765-8787.
[cited by applicant]
Naia, L. et al. (2017). Mitochondrial Ca2+ handling in Huntington's and Alzheimer's diseases—Role of ER-mitochondria crosstalk. Biochemical and biophysical research communications, 483(4), 1069-1077.
[cited by applicant]
Naia, L. et al. (2018). Isolation and Maintenance of Striatal Neurons. Bio-protocol, 8(8), e2823-e2823.
[cited by applicant]
Naia, L. et al. (Jun. 2018). Pridopidine improves overall mitochondrial function in cellular models of Huntington's disease. In
[cited by applicant]
Neueder, A. et al. (2017). The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington's disease patients. Scientific reports, 7(1), 1-10.
[cited by applicant]
Nguyen, L. et al. (2015). Role of sigma-1 receptors in neurodegenerative diseases. Journal of pharmacological sciences, 127(1), 17-29.
[cited by applicant]
Nguyen, L. et al. (2017). Sigma-1 receptors and neurodegenerative diseases: towards a hypothesis of sigma-1 receptors as amplifiers of neurodegeneration and neuroprotection. Sigma Receptors: Their Role in Disease and as…
[cited by applicant]
Nguyen, T. et al. (2003). Regulatory mechanisms controlling gene expression mediated by the antioxidant response element. Annual review of pharmacology and toxicology, 43(1), 1233-260.
[cited by applicant]
Nicoleau, C. et al. (2013). Embryonic stem cells neural differentiation qualifies the role of Wnt/β-Catenin signals in human telencephalic specification and regionalization. Stem (cells, 31(9), 1763-1774.
[cited by applicant]
Niescier, R. F. et al. (2018). MCU interacts with Miro1 to modulate mitochondrial functions in neurons. Journal of Neuroscience, 38(20), 4666-4677.
[cited by applicant]
Noh, J. Y. et al. (2009). SCAMPS links endoplasmic reticulum stress to the accumulation of expanded polyglutamine protein aggregates via endocytosis inhibition. Journal of Biological Chemistry, 284(17), 11318-11325.
[cited by applicant]
Omi, K. et al. (2005). siRNA-mediated inhibition of endogenous Huntington disease gene expression induces an aberrant configuration of the ER network in vitro. Biochemical and biophysical research communications, 338(2)…
[cited by applicant]
Onofre, I. et al. (2016). Fibroblasts of Machado Joseph disease patients reveal autophagy impairment. Scientific reports, 6(1), 1-10.
[cited by applicant]
Paillusson, S. et al. (2016). There's something wrong with my MAM; the ER-mitochondriaaxis and neurodegenerative diseases. Trends in neurosciences, 39(3), 146-157.
[cited by applicant]
Paillusson, S. et al. (2017). α-Synuclein binds to the ER-mitochondria tethering protein VAPB to disrupt Ca 2+ homeostasis and mitochondrial ATP production. Acta neuropathologica, 134(1), 129-149.
[cited by applicant]
Pal, A. et al. (2012). The sigma-1 receptor protects against cellular oxidative stress and activates antioxidant response elements. European journal of pharmacology, 682(1-3), 12-20.
[cited by applicant]
Pande, A. C. et al. (1999). A placebo-controlled trial of igmesine in the treatment of major depression. European Neuropsychopharmacology, (9), 138.
[cited by applicant]
Panov, A. V. et al. (2002). Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines. Nature neuroscience, 5(8), 731-736.
[cited by applicant]
Park, I. H. et al. (2008). Disease-specific induced pluripotent stem cells. cell, 134(5), 877-886.
[cited by applicant]
Rabinovich-Guilatt, L. et al. (2016). The effect of mild and moderate renal impairment on the pharmacokinetics of pridopidine, a new drug for Huntington's disease. British journal of clinical pharmacology, 81(2), 246-25…
[cited by applicant]
Rabinovich-Guilatt, L. et al. (2017). Metoprolol-pridopidine drug-drug interaction and food effect assessments of pridopidine, a new drug for treatment of Huntington's disease. British journal of clinical pharmacology, …
[cited by applicant]
Rejonen, S. et al. (2008), Inhibition of endoplasmic reticulum stress counteracts neuronal cell death and protein aggregation caused by N-terminal mutant huntingtin proteins. Experimental cell research, 314(5), 950-960.
[cited by applicant]
Reilmann, R. et al. & European Huntington's Disease Network. (2019). Safety and efficacy of pridopidine in patients with Huntington's disease (PRIDE-HD): a phase 2, randomised, placebo-controlled, multicentre, dose-rang…
[cited by applicant]
Reilmann, R. et al. (Oct. 2019). Novel PET data and analysis of early HD from PRIDE-HD. In Neurotherapeutics (vol. 16, No. 4, pp. 1360-1360). One New York Plaza, Suite 4600, New York, NY, United States: Springer.
[cited by applicant]
Ribeiro, M. et al. (2014). Insulin and IGF-1 improve mitochondrial function in a PI-3K/Akt-dependent manner and reduce mitochondrial generation of reactive oxygen species in Huntington's disease knock-in striatal cells.…
[cited by applicant]
Rietdorf J, A S. Multi Kymograph [Internet]. 2008. Available from: http://fiji.sc/Multi_Kymograph.
[cited by applicant]
Rogers, G. W. et al. (2011). High throughput microplate respiratory measurements using minimal quantities of isolated mitochondria. PloS one, 6(7), e21746.
[cited by applicant]
Ron, D. (2002). Translational control in the endoplasmic reticulum stress response. The Journal of clinical investigation, 110(10), 1383-1388.
[cited by applicant]
Rossi, A. et al. (2019). Calcium, mitochondria and cell metabolism: A functional triangle in bioenergetics. Biochimica et Biophysica Acta (BBA)-Molecular Cell Research, 1866(7), 1068-1078.
[cited by applicant]
Rousseaux, C. G. et al. (2016). Sigme receptors [σRs]: biology in normal and diseased states. Journal of Receptors and Signal Transduction, 36(4), 327-388.
[cited by applicant]
Ryskamp, D. A. et al. (2019). Mutational analysis of sigma-1 receptor's role in synaptic stability. Frontiers in neuroscience, 13, 1012.
[cited by applicant]
Ryskamp, D. et al. (2017). The sigma-1 receptor mediates the beneficial effects of pridopidine in a mouse model of Huntington disease. Neurobiology of disease, 97, 46-59.
[cited by applicant]
Ryskamp, D. et al. (2019). Pridopidine stabilizes mushroom spines in mouse models of Alzheimer's disease by acting on the sigma-1 receptor. Neurobiology of disease, 124, 489-504.
[cited by applicant]
Sahlholm, K. et al. (2013). The dopamine stabilizers ACR16 and (−)-OSU6162 display nanomolar affinities at the σ-1 receptor. Molecular psychiatry, 18(1), 12-14.
[cited by applicant]
Sahlholm, K. et al. (2015). Pridopidine selectively occupies sigma-1 rather than dopamine D2 receptors at behaviorally active doses. Psychopharmacology, 232(18), 3443-3453.
[cited by applicant]
Schaffar, G. et al. (2004). Cellular toxicity of polyglutamine expansion proteins: Imechanism of transcription factor deactivation. Molecular cell, 15(1), 95-105.
[cited by applicant]
Schmidt, H. R. et al. (2016). Crystal structure of the human σ 1 receptor. Nature, 532(7600), 527-530.
[cited by applicant]
Shacham, T. et al. (2019). Protein misfolding and ER stress in Huntington's disease. Frontiers in molecular biosciences, 6, 20.
[cited by applicant]
Slow, E. J. et al. (2003). Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease. Human molecular genetics, 12(13), 1555-1567.
[cited by applicant]
Smith-Duak, A. I. et al. (2019). Impairment and restoration of homeostatic plasticity in cultured cortical neurons from a mouse model of huntington disease. Frontiers in cellular neuroscience, 13, 209.
[cited by applicant]
Squitieri, F. et al. (2015). Pridopidine, a dopamine stabilizer, improves motor performance and shows neuroprotective effects in Huntington disease R6/2 mouse model. Journal of cellular and molecular medicine, 19(11), 2…
[cited by applicant]
Su, T. P. et al. (2010). The sigma-1 receptor chaperone as an inter-organelle signaling modulator. Trends in pharmacological sciences, 31(12), 557-566.
[cited by applicant]
Su, T. P. et al. (2016). The sigma-1 receptor as a pluripotent modulator in living systems. Trends in pharmacological sciences, 37(4), 262-278.
[cited by applicant]
Takahashi, T. et al. (2008). Soluble polyglutamine oligomers formed prior to inclusion body formation are cytotoxic. Human molecular genetics, 17(3), 345-356.
[cited by applicant]
Tang, T. S. et al. (2003). Huntingtin and huntingtin-associated protein 1 influence neuronal calcium signaling mediated by inositol-(1, 4, 5) triphosphate receptor type 1. Neuron, 39(2), 227-239.
[cited by applicant]
Tang, T. S. et al. (2005). Disturbed Ca2+ signaling and apoptosis of medium spiny neurons in Huntington's disease. Proceedings of the National Academy of Sciences, 102(7), 2602-2607.
[cited by applicant]
Trettel, F. et al. (2000). Dominant phenotypes produced by the HD mutation in ST Hdh Q111 striatal cells. Human molecular genetics, 9(19), 2799-2809.
[cited by applicant]
Tsai, S. Y. A. et al. (2014). Sigma-1 receptor chaperones in neurodegenerative and psychiatric disorders. Expert opinion on therapeutic targets, 18(12), 1461-1476.
[cited by applicant]
Urani, A. et al. (2004). Enhanced antidepressant efficacy of σ1 receptor agonists in rats after chronic intracerebroventricular infusion of β-amyloid-(1-40) protein. European journal lof pharmacology, 486(2), 151-161.
[cited by applicant]
Vagnerova, K. et al. (2006). Sigma 1 receptor agonists act as neuroprotective drugs through inhibition of inducible nitric oxide synthase. Anesthesia & Analgesia, 103(2), 430-434.
[cited by applicant]
Van Raamsdonk, J. M. et al. (2005). Cognitive dysfunction precedes neuropathology and motor abnormalities in the YAC128 mouse model of Huntington's disease. Journal of Neuroscience, 25(16), 4169-4180.
[cited by applicant]
Ververis, A. et al. (2020). Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c. 500A> T missense mutation. Journal of medical (genetics, 57(3), 178-186.
[cited by applicant]
Vidal, R. L. et al. (2012). Targeting the UPR transcription factor XBP1 protects against Huntington's disease through the regulation of FoxO1 and autophagy. Human molecular genetics, 21(10), 2245-2262.
[cited by applicant]
Wang, X. et al. (2018). Systematic In-Depth Proteomic Analysis of Mitochondria-Associated Endoplasmic Reticulum Membranes in Mouse and Human Testes. Proteomics, 18(14), 1700478.
[cited by applicant]
Watanabe, S. et al. (2016). Mitochondria-associated membrane collapse is a common pathomechanism in SIGMAR 1-and SOD 1-linked ALS. EMBO molecular medicine, 8(12), 1421-1437.
[cited by applicant]
Weng, T. Y. et al. (2017). Loss of sigma-1 receptor chaperone promotes astrocytosis and enhances the Nrf2 antioxidant defense. Oxidative medicine and cellular longevity, 2017.
[cited by applicant]
Wong, A. Y. et al. (2016). Aberrant subcellular dynamics of sigma-1 receptor mutants underlying neuromuscular diseases. Molecular pharmacology, 90(3), 238-253.
[cited by applicant]
Yang, H. et al. (2010). Huntingtin interacts with the cue domain of gp78 and inhibits gp78 binding to ubiquitin and p97/VCP. PloS one, 5(1), e8905.
[cited by applicant]
Zhou, Z. et al. (2020). Endoplasmic reticulum-associated degradation regulates mitochondrial dynamics in brown adipocytes. Science, 368(6486), 54-60.
[cited by applicant]
Zoghbi, H. Y. et al. (2000). Glutamine repeats and neurodegeneration. Annual review of neuroscience, 23(1), 217-247.
[cited by applicant]
Bottoni P, et al. Remarks on mitochondrial myopathies.
[cited by applicant]
Cagalinec M, et al. Role of mitochondrial dynamics in neuronal development: mechanism for Wolfram syndrome.
[cited by applicant]
Chanprasert S, et al. Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.
[cited by applicant]
Dimauro S. Mitochondrial myopathies.
[cited by applicant]
Farruggia P, et al. Pearson syndrome.
[cited by applicant]
Finsterer J. Neuropathy, ataxia, and retinitis Pigmentosa syndrome.
[cited by applicant]
Hirano M, et al. Topical review: mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts. Journal of child neurology. Jan. 1994;9(1):4-13.
[cited by applicant]
Nishino I, et al. MNGIE: from nuclear DNA to mitochondrial DNA.
[cited by applicant]
Rahman S, et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities.
[cited by applicant]
Saneto RP, et al. Alpers-huttenlocher syndrome.
[cited by applicant]
Schmucker S, et al. Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches.
[cited by applicant]
Shoffner JM, et al. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation.
[cited by applicant]
Van Den Ouweland JM, et al. Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA Leu (UUR) gene.
[cited by applicant]
Zatyka M, et al. Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome.
[cited by applicant]
Ashizawa, T., & Xia, G. (2016). Ataxia. Continuum, 22(4), 1208-1226.
[cited by applicant]
Bundey, S. (1993). Wolfram syndrome: mitochondrial disorder. The Lancet, 342(8878), 1059-1060.
[cited by applicant]
Klockgether, T. (2005). Ataxias. Diagnostic procedure and treatment. Der Nervenarzt, 76(10), 1275-83.
[cited by applicant]
Wabbels, B., et al. (2008). Chronisch-progressive externe Ophthalmoplegie und Kearns-Sayre-Syndrom. Der Ophthalmologe, 105(6), 550-556.
[cited by applicant]
Ahmed, S. T., et al. (2018). Diagnosis and treatment of mitochondrial myopathies.
[cited by applicant]
Axelrod, F. B., & Simson, G. V. (2007). Hereditary sensory and autonomic neuropathies: types II, III, and IV.
[cited by applicant]
El-Hattab, A. W., et al. (2013). Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.
[cited by applicant]
Slaugenhaupt, S. A., & Gusella, J. F. (2002). Familial dysautonomia.
[cited by applicant]