Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.
about
α-Synuclein binds to the ER-mitochondria tethering protein VAPB to disrupt Ca2+ homeostasis and mitochondrial ATP productionMitochondria-associated membrane collapse is a common pathomechanism in SIGMAR1- and SOD1-linked ALSThe ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins.Amyotrophic lateral sclerosis-associated mutant SOD1 inhibits anterograde axonal transport of mitochondria by reducing Miro1 levels.Recessive distal motor neuropathy with pyramidal signs in an Omani kindred: underlying novel mutation in the SIGMAR1 gene.ALS-Associated Endoplasmic Reticulum Proteins in Denervated Skeletal Muscle: Implications for Motor Neuron Disease Pathology.Structural Perspectives on Sigma-1 Receptor Function.Mapping human pluripotent stem cell differentiation pathways using high throughput single-cell RNA-sequencing.Disruption of ER-mitochondria signalling in fronto-temporal dementia and related amyotrophic lateral sclerosis.Endoplasmic reticulum and mitochondria in diseases of motor and sensory neurons: a broken relationship?
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P2860
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Loss-of-function mutations in ...... tethering and Ca2+ signalling.
@en
type
label
Loss-of-function mutations in ...... tethering and Ca2+ signalling.
@en
prefLabel
Loss-of-function mutations in ...... tethering and Ca2+ signalling.
@en
P2093
P2860
P50
P356
P1476
Loss-of-function mutations in ...... tethering and Ca2+ signalling.
@en
P2093
Antonio Petrucci
Elisa Gregianin
Gian M Fabrizi
Giorgia Pallafacchina
Giovanni Vazza
Laura Diano
Ludovico Lispi
Maria L Mostacciuolo
Maria Muglia
Tiziana Cavallaro
P2860
P304
P356
10.1093/HMG/DDW220
P50
P577
2016-07-08T00:00:00Z