SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations - Wikidata - awgldk - TriplyDB

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations

http://www.wikidata.org/entity/Q28247299

about

Charcot-Marie-Tooth disease and intracellular traffic The Charcot Marie Tooth disease protein LITAF is a zinc-binding monotopic membrane protein.LITAF and TNFSF15, two downstream targets of AMPK, exert inhibitory effects on tumor growth Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C.The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases LITAF mutations associated with Charcot-Marie-Tooth disease 1C show mislocalization from the late endosome/lysosome to the mitochondria.Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways.The debut of a rational treatment for an inherited neuropathy?Dysregulated Inflammatory Signaling upon Charcot-Marie-Tooth Type 1C Mutation of SIMPLE Protein.CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.Connexinopathies: a structural and functional glimpse How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal trafficking Inherited peripheral neuropathies.SIMPLE: A new regulator of endosomal trafficking and signaling in health and disease X inactivation in females with X-linked Charcot-Marie-Tooth disease.Mutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes.Negative regulation of Bmi-1 by AMPK and implication in cancer progression.Lessons from London.Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.X-linked Charcot-Marie-Tooth disease.A review of genetic counseling for Charcot Marie Tooth disease (CMT).LITAF (SIMPLE) regulates Wallerian degeneration after injury but is not essential for peripheral nerve development and maintenance: implications for Charcot-Marie-Tooth disease.Genetic testing practices for Charcot-Marie-Tooth type 1A disease.A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.

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SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations

http://www.wikidata.org/entity/Q28247299

description

2006 nî lūn-bûn

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2006 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2006 թվականի հունիսին հրատարակված գիտական հոդված

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2006年の論文

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SIMPLE mutation analysis in do ...... disease: three novel mutations

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SIMPLE mutation analysis in do ...... disease: three novel mutations

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SIMPLE mutation analysis in do ...... disease: three novel mutations

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SIMPLE mutation analysis in do ...... disease: three novel mutations

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SIMPLE mutation analysis in do ...... disease: three novel mutations

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SIMPLE mutation analysis in do ...... disease: three novel mutations

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SIMPLE mutation analysis in do ...... disease: three novel mutations

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SIMPLE mutation analysis in do ...... disease: three novel mutations

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SIMPLE mutation analysis in do ...... disease: three novel mutations

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J.1085-9489.2006.00080.X

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Journal of the Peripheral Nervous System

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SIMPLE mutation analysis in do ...... disease: three novel mutations

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Antoon Vandenberghe

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Christophe Vial

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Claude Stoll

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Elisabeth Ollagnon

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François Ziegler

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Irène Maire

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Philippe Latour

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Pierre-Marie Gonnaud

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Serge Perelman

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Tanya Stojkovic

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P2860

A novel lipopolysaccharide-induced transcription factor regulating tumor necrosis factor alpha gene expression: molecular cloning, sequencing, characterization, and chromosomal assignment

Mycobacterium bovis Bacillus Calmette-Guerin and its cell wall complex induce a novel lysosomal membrane protein, SIMPLE, that bridges the missing link between lipopolysaccharide and p53-inducible gene, LITAF(PIG7), and estrogen-inducible gene, EET-1

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot-Marie-Tooth disease

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

Identification of multiple proteins expressed in murine embryos as binding partners for the WW domains of the ubiquitin-protein ligase Nedd4

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

Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients

The regulation of pubertal growth.

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