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Article

TorsinA dysfunction causes persistent neuronal nuclear pore defects.

Human molecular genetics - 1 Feb 2018

Pappas Samuel S, Liang Chun-Chi, Kim Sumin, Rivera CheyAnne O, Dauer William T

Abstract excerpt

A critical challenge to deciphering the pathophysiology of neurodevelopmental disease is identifying which of the myriad abnormalities that emerge during CNS maturation persist to contribute to long-term brain dysfunction. Childhood-onset dystonia caused by a loss-of-function mutation in the AAA+ protein torsinA exemplifies this challenge. Neurons lacking torsinA develop transient nuclear envelope (NE)...

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Identifiers

PMID: 29186574
DOI: 10.1093/hmg/ddx405
PMCID: PMC5886148

Genes

SUN1

Provenance

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Related research

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TorsinA dysfunction causes persistent neuronal nuclear pore defects.PMID 29186574Read ↗

Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope.Semantic proximity Read ↗

Neuronal Nuclear Membrane Budding Occurs during a Developmental Window Modulated by Torsin Paralogs.Semantic proximity Read ↗

Torsin mediates primary envelopment of large ribonucleoprotein granules at the nuclear envelope.Semantic proximity Read ↗

TorsinA and dystonia: from nuclear envelope to synapseSemantic proximity Read ↗

Dystonia-associated TorsinA-ΔE mutation induces a gain-of-function interaction with XPO1 via its N-terminal hydrophobic segmentSemantic proximity Read ↗

LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation.Semantic proximity Read ↗

The role of torsinA in dystonia.Semantic proximity Read ↗

Dystonia and the nuclear envelope.Semantic proximity Read ↗

Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation.Semantic proximity Read ↗

Dysregulated nuclear Lamin B1 in DYT1 dystonia thickens the nuclear lamina and disrupts 14-3-3 proteinsSemantic proximity Read ↗

The nuclear envelope localization of DYT1 dystonia torsinA-ΔE requires the SUN1 LINC complex component.Semantic proximity Read ↗

TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton.Semantic proximity Read ↗

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