Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.

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The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system Animal and cellular models of familial dysautonomia.MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia.

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Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.

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2015 nî lūn-bûn

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Axon Transport and Neuropathy: ...... esis of Familial Dysautonomia.

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Axon Transport and Neuropathy: ...... esis of Familial Dysautonomia.

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Axon Transport and Neuropathy: ...... esis of Familial Dysautonomia.

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Axon Transport and Neuropathy: ...... esis of Familial Dysautonomia.

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Warren G Tourtellotte

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P2860

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.

Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton

The atypical Rho GTPases Miro-1 and Miro-2 have essential roles in mitochondrial trafficking

Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin

Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

Familial dysautonomia is caused by mutations of the IKAP gene.

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

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489-499

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scholarly article

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10.1016/J.AJPATH.2015.10.022

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English

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186

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2015-12-24T00:00:00Z

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Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.

about

P2860

P2860

Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.

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P1476

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P932