Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
about
Atlastin GTPases are required for Golgi apparatus and ER morphogenesis.Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic ParaplegiaIntramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegiaMissense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyCharcot-Marie-Tooth disease and intracellular trafficClinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary NeuropathyTissue-autonomous function of Drosophila seipin in preventing ectopic lipid droplet formationThe lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology.Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast.Seipin performs dissectible functions in promoting lipid droplet biogenesis and regulating droplet morphology.Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyRare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal PolyneuropathiesProtrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegiaSeipinopathy: a novel endoplasmic reticulum stress-associated diseaseATP7A-related copper transport diseases-emerging concepts and future trendsBerardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiationClinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot StudySpastin, atlastin, and ER relocalization are involved in axon but not dendrite regeneration.Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.Spartin activates atrophin-1-interacting protein 4 (AIP4) E3 ubiquitin ligase and promotes ubiquitination of adipophilin on lipid droplets.Lack of testicular seipin causes teratozoospermia syndrome in men.Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafishTranscriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia.Proteome-wide analysis of single-nucleotide variations in the N-glycosylation sequon of human genesTowards a mechanistic understanding of lipodystrophy and seipin functionsExome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.Neuroanatomical characterisation of the expression of the lipodystrophy and motor-neuropathy gene Bscl2 in adult mouse brainLate onset spinal motor neuronopathy is caused by mutation in CHCHD10.Seipin mutation at glycosylation sites activates autophagy in transfected cells via abnormal large lipid droplets generation.Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis.Unraveling the genetics of distal hereditary motor neuronopathies.Not just fat: the structure and function of the lipid droplet.Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism.Suppression of adipogenesis by pathogenic seipin mutant is associated with inflammatory responseSeipin is a discrete homooligomer
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P2860
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
description
2004 nî lūn-bûn
@nan
2004 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի մարտին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Heterozygous missense mutation ...... neuropathy and Silver syndrome
@ast
Heterozygous missense mutation ...... neuropathy and Silver syndrome
@en
Heterozygous missense mutation ...... neuropathy and Silver syndrome
@en-gb
Heterozygous missense mutation ...... neuropathy and Silver syndrome
@nl
type
label
Heterozygous missense mutation ...... neuropathy and Silver syndrome
@ast
Heterozygous missense mutation ...... neuropathy and Silver syndrome
@en
Heterozygous missense mutation ...... neuropathy and Silver syndrome
@en-gb
Heterozygous missense mutation ...... neuropathy and Silver syndrome
@nl
prefLabel
Heterozygous missense mutation ...... neuropathy and Silver syndrome
@ast
Heterozygous missense mutation ...... neuropathy and Silver syndrome
@en
Heterozygous missense mutation ...... neuropathy and Silver syndrome
@en-gb
Heterozygous missense mutation ...... neuropathy and Silver syndrome
@nl
P2093
P2860
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Heterozygous missense mutation ...... neuropathy and Silver syndrome
@en
P2093
Andrew H Crosby
Christian Windpassinger
Christine Verellen
Erwin Petek
Heema Patel
Johanna A Reed
Klaus Wagner
Peter Van den Bergh
Thomas T Warner
P2860
P2888
P3181
P356
10.1038/NG1313
P407
P50
P577
2004-03-01T00:00:00Z
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P6179
1030810886