Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies (Q36577237)

15 August 2017

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title

Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies (English)

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15 August 2017

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15 August 2017

Stephan Züchner

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15 August 2017

publication date

1 January 2006

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Nature Clinical Practice Neurology

15 August 2017

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inferred from page(s)

published in

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15 August 2017

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15 August 2017

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15 August 2017

page(s)

45-53

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Mitochondrial transmission during mating in Saccharomyces cerevisiae is determined by mitochondrial fusion and fission and the intramitochondrial segregation of mitochondrial DNA

15 August 2017

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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

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Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene

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Genetic aspects of hereditary motor and sensory neuropathy (types I and II)

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Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations

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Mitochondrial dynamics in mammals

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Mitochondrial fission in apoptosis, neurodegeneration and aging

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7 January 2021

Structural basis of mitochondrial tethering by mitofusin complexes.

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The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system

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7 January 2021

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

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7 January 2021

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

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7 January 2021

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24

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7 January 2021

Chaperone-like activity of alpha-crystallin and other small heat shock proteins

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7 January 2021

The human genome encodes 10 alpha-crystallin-related small heat shock proteins: HspB1-10

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7 January 2021

HspB8, a small heat shock protein mutated in human neuromuscular disorders, has in vivo chaperone activity in cultured cells.

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Mammalian small stress proteins protect against oxidative stress through their ability to increase glucose-6-phosphate dehydrogenase activity and by maintaining optimal cellular detoxifying machinery

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7 January 2021

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

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7 January 2021

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

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7 January 2021

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

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7 January 2021

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

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7 January 2021

Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes

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7 January 2021

GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria

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7 January 2021

Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene

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7 January 2021

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

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7 January 2021

Inhibiting axon degeneration and synapse loss attenuates apoptosis and disease progression in a mouse model of motoneuron disease

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7 January 2021

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene

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7 January 2021

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

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7 January 2021

The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy

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7 January 2021

Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport

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7 January 2021

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

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7 January 2021

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

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7 January 2021

A novel RAB7 mutation associated with ulcero-mutilating neuropathy

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7 January 2021

Rab4 and Rab7 define distinct nonoverlapping endosomal compartments

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7 January 2021

Rab 7: an important regulator of late endocytic membrane traffic

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7 January 2021

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

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7 January 2021

Dynamin and its role in membrane fission

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7 January 2021

Dynamin2 and cortactin regulate actin assembly and filament organization.

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7 January 2021

Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion

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7 January 2021

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

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7 January 2021

Phenotypic clustering in MPZ mutations

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7 January 2021

Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients

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7 January 2021

Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.

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7 January 2021

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation

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7 January 2021

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

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7 January 2021

The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.

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7 January 2021

The nuclear lamina comes of age.

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7 January 2021

Laminopathies: involvement of structural nuclear proteins in the pathogenesis of an increasing number of human diseases

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7 January 2021

The clinical features of hereditary motor and sensory neuropathy types I and II

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7 January 2021

The many faces of Charcot-Marie-Tooth disease

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7 January 2021

Identifiers

DOI

10.1038/NCPNEURO0071

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release_k3dt4sddnzdnnhw5fqjgfhzlde

15 August 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/k3dt4sddnzdnnhw5fqjgfhzlde

24 November 2022

mapped directly with Wikidata item

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