Associated Papers
SIGMAR1 gene-related neuromuscular disorders - what do we know?
Kalita M et al.
Neurologia I Neurochirurgia Polska, 2025
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Mutated sigma-1R disrupts cell homeostasis in dHMN patient cells.
Zanin S et al.
Cellular and Molecular Life Sciences : Cmls, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
SIGMAR1 targets AMPK/ULK1 pathway to inhibit SH-SY5Y cell apoptosis by regulating endoplasmic reticulum stress and autophagy.
Kong M et al.
Functional & Integrative Genomics, 2024
Genetic and in silico analysis of Indian sporadic young onset patient with amyotrophic lateral sclerosis.
Roychowdhury S et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Mitochondria, a Key Target in Amyotrophic Lateral Sclerosis Pathogenesis.
Genin EC et al.
Genes, 2023
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Roles of Aging, Circular RNAs, and RNA Editing in the Pathogenesis of Amyotrophic Lateral Sclerosis: Potential Biomarkers and Therapeutic Targets.
Hosaka T et al.
Cells, 2023
Nucleoporin POM121 signals TFEB-mediated autophagy via activation of SIGMAR1/sigma-1 receptor chaperone by pridopidine.
Wang SM et al.
Autophagy, 2023
Unraveling the impact of disrupted nucleocytoplasmic transport systems in C9orf72-associated ALS.
McGoldrick P et al.
Frontiers in Cellular Neuroscience, 2023
SIGMAR1 variants in ALS-PD complex cases: a case report of a novel mutation and literature review.
Li H et al.
Frontiers in Neurology, 2023
Modelling amyotrophic lateral sclerosis in rodents.
Todd TW et al.
Nature Reviews. Neuroscience, 2022
Molecular Characterization of Skeletal Muscle Dysfunction in Sigma 1 Receptor (Sigmar1) Knockout Mice.
Aishwarya R et al.
The American Journal of Pathology, 2022
Sigma-1 Receptor Is Critical for Mitochondrial Activity and Unfolded Protein Response in Larval Zebrafish.
Crouzier L et al.
International Journal of Molecular Sciences, 2021
Amyotrophic Lateral Sclerosis (ALS): Stressed by Dysfunctional Mitochondria-Endoplasmic Reticulum Contacts (MERCs).
Chen J et al.
Cells, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
Sigmar1's Molecular, Cellular, and Biological Functions in Regulating Cellular Pathophysiology.
Aishwarya R et al.
Frontiers in Physiology, 2021
Wildtype σ1 receptor and the receptor agonist improve ALS-associated mutation-induced insolubility and toxicity.
Shinoda Y et al.
The Journal of Biological Chemistry, 2020
The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature.
Picher-Martel V et al.
Journal of Child Neurology, 2020
Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants.
Ma MT et al.
Neuromuscular Disorders : Nmd, 2020
Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation.
Ververis A et al.
Journal of Medical Genetics, 2020
The Glu102 mutation disrupts higher-order oligomerization of the sigma 1 receptor.
Abramyan AM et al.
Computational and Structural Biotechnology Journal, 2020
Novel missense alleles of SIGMAR1 as tools to understand emerin-dependent gene silencing in response to cocaine.
Arun AS et al.
Experimental Biology and Medicine (maywood, N.j.), 2019
Causative Genes in Amyotrophic Lateral Sclerosis and Protein Degradation Pathways: a Link to Neurodegeneration.
Maurel C et al.
Molecular Neurobiology, 2018
Endoplasmic reticulum and mitochondria in diseases of motor and sensory neurons: a broken relationship?
Bernard-Marissal N et al.
Cell Death & Disease, 2018
Recessive distal motor neuropathy with pyramidal signs in an Omani kindred: underlying novel mutation in the SIGMAR1 gene.
Nandhagopal R et al.
European Journal of Neurology, 2018
The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins.
Dreser A et al.
Cell Death and Differentiation, 2017
Mitochondria-associated membrane collapse is a common pathomechanism in SIGMAR1- and SOD1-linked ALS.
Watanabe S et al.
Embo Molecular Medicine, 2016
SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.
Horga A et al.
Neurology, 2016
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.
Gregianin E et al.
Human Molecular Genetics, 2016
Aberrant Subcellular Dynamics of Sigma-1 Receptor Mutants Underlying Neuromuscular Diseases.
Wong AY et al.
Molecular Pharmacology, 2016
Mitochondria and endoplasmic reticulum crosstalk in amyotrophic lateral sclerosis.
Manfredi G et al.
Neurobiology of Disease, 2016
Clinical and genetic basis of familial amyotrophic lateral sclerosis.
Souza PV et al.
Arquivos De Neuro-psiquiatria, 2015
In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal lobar dementia.
Ullah MI et al.
Neurogenetics, 2015
The role of SIGMAR1 gene mutation and mitochondrial dysfunction in amyotrophic lateral sclerosis.
Fukunaga K et al.
Journal of Pharmacological Sciences, 2015
Methyl pyruvate rescues mitochondrial damage caused by SIGMAR1 mutation related to amyotrophic lateral sclerosis.
Tagashira H et al.
Biochimica Et Biophysica Acta, 2014
Accumulation of the sigma-1 receptor is common to neuronal nuclear inclusions in various neurodegenerative diseases.
Miki Y et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2014
Amyotrophic lateral sclerosis: an update on recent genetic insights.
Iguchi Y et al.
Journal of Neurology, 2013
Expression of a truncated form of the endoplasmic reticulum chaperone protein, σ1 receptor, promotes mitochondrial energy depletion and apoptosis.
Shioda N et al.
The Journal of Biological Chemistry, 2012
A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.
Al-Saif A et al.
Annals of Neurology, 2011