Associated Papers
SIGMAR1 gene-related neuromuscular disorders - what do we know?
Kalita M et al.
Neurologia I Neurochirurgia Polska, 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
40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants
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
Molecular Characterization of Skeletal Muscle Dysfunction in Sigma 1 Receptor (Sigmar1) Knockout Mice.
Aishwarya R et al.
The American Journal of Pathology, 2022
Sigmar1's Molecular, Cellular, and Biological Functions in Regulating Cellular Pathophysiology.
Aishwarya R et al.
Frontiers in Physiology, 2021
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
Lipid metabolic pathways converge in motor neuron degenerative diseases.
Rickman OJ et al.
Brain : a Journal of Neurology, 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
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
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
Select a paper to view details