A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)
about
Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyProtrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegiaThe critical role of membralin in postnatal motor neuron survival and diseaseGenetics and genomic medicine in Saudi ArabiaMutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathwayHereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ SignalingMutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.A novel ER-microtubule-binding protein, ERLIN2, stabilizes Cyclin B1 and regulates cell cycle progression.Novel Mutations in Endoplasmic Reticulum Lipid Raft-associated Protein 2 Gene Cause Pure Hereditary Spastic Paraplegia Type 18A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.Cellular pathways of hereditary spastic paraplegia.Associating transcription factors and conserved RNA structures with gene regulation in the human brain.Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes
P2860
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P2860
A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)
description
2011 nî lūn-bûn
@nan
2011 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
A nullimorphic ERLIN2 mutation ...... astic paraplegia locus (SPG18)
@ast
A nullimorphic ERLIN2 mutation ...... astic paraplegia locus (SPG18)
@en
type
label
A nullimorphic ERLIN2 mutation ...... astic paraplegia locus (SPG18)
@ast
A nullimorphic ERLIN2 mutation ...... astic paraplegia locus (SPG18)
@en
prefLabel
A nullimorphic ERLIN2 mutation ...... astic paraplegia locus (SPG18)
@ast
A nullimorphic ERLIN2 mutation ...... astic paraplegia locus (SPG18)
@en
P2093
P2860
P1433
P1476
A nullimorphic ERLIN2 mutation ...... astic paraplegia locus (SPG18)
@en
P2093
Anas M Alazami
Hisham Al Dhalaan
Nouran Adly
P2860
P2888
P304
P356
10.1007/S10048-011-0291-8
P577
2011-07-28T00:00:00Z