Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.
about
Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein.Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.Cytoplasmic dynein and its regulatory proteins in Golgi pathology in nervous system disorders.Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient.Disease-associated mutations in human BICD2 hyperactivate motility of dynein-dynactin.Dynein/dynactin is necessary for anterograde transport of Mbp mRNA in oligodendrocytes and for myelination in vivo.Combining Structure-Function and Single-Molecule Studies on Cytoplasmic Dynein.Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.Neurochondrin interacts with the SMN protein suggesting a novel mechanism for Spinal Muscular Atrophy pathology.
P2860
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P2860
Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年學術文章
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name
Novel mutations in the DYNC1H1 ...... al spectrum of dyneinopathies.
@en
Novel mutations in the DYNC1H1 ...... al spectrum of dyneinopathies.
@nl
type
label
Novel mutations in the DYNC1H1 ...... al spectrum of dyneinopathies.
@en
Novel mutations in the DYNC1H1 ...... al spectrum of dyneinopathies.
@nl
prefLabel
Novel mutations in the DYNC1H1 ...... al spectrum of dyneinopathies.
@en
Novel mutations in the DYNC1H1 ...... al spectrum of dyneinopathies.
@nl
P2093
P2860
P356
P1433
P1476
Novel mutations in the DYNC1H1 ...... al spectrum of dyneinopathies.
@en
P2093
Albena Jordanova
Els De Vriendt
Ivailo Tournev
Ivan Litvinenko
John MacMillan
Kristien Peeters
Marina Kennerson
Peter De Jonghe
Stoyan Bichev
Sven Bervoets
P2860
P304
P356
10.1002/HUMU.22744
P577
2015-03-01T00:00:00Z