(Q30537559)

English

A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

15 August 2017

A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene (English)

1 reference

Europe PubMed Central

15 August 2017

Stephan Züchner

11

0 references

Alexander P Drew

object named as

Alexander P Drew

8

0 references

object named as

Gary Rance

9

0 references

object named as

Monique M Ryan

12

0 references

Martin Delatycki

10

object named as

Martin B Delatycki

1 reference

Europe PubMed Central

15 August 2017

author name string

Marina L Kennerson

1

1 reference

Europe PubMed Central

15 August 2017

Eppie M Yiu

2

1 reference

Europe PubMed Central

15 August 2017

David T Chuang

3

1 reference

Europe PubMed Central

15 August 2017

Aditi Kidambi

4

1 reference

Europe PubMed Central

15 August 2017

Shih-Chia Tso

5

1 reference

Europe PubMed Central

15 August 2017

Carolyn Ly

6

1 reference

Europe PubMed Central

15 August 2017

Rabia Chaudhry

7

1 reference

Europe PubMed Central

15 August 2017

Garth A Nicholson

13

1 reference

Europe PubMed Central

15 August 2017

publication date

7 January 2013

1 reference

Europe PubMed Central

15 August 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

15 August 2017

22

1 reference

Europe PubMed Central

15 August 2017

7

1 reference

Europe PubMed Central

15 August 2017

1404-1416

1 reference

Europe PubMed Central

15 August 2017

The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Peripheral neuropathy associated with mitochondrial disease in children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Exome sequencing identifies the cause of a mendelian disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Targeted capture and massively parallel sequencing of 12 human exomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

The Sequence Alignment/Map format and SAMtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Pyruvate dehydrogenase kinase-4 structures reveal a metastable open conformation fostering robust core-free basal activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Three members of the human pyruvate dehydrogenase kinase gene family are direct targets of the peroxisome proliferator-activated receptor beta/delta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Crystal structure of an asymmetric complex of pyruvate dehydrogenase kinase 3 with lipoyl domain 2 and its biological implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Pyruvate dehydrogenase kinase regulatory mechanisms and inhibition in treating diabetes, heart ischemia, and cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Crystal structure of pyruvate dehydrogenase kinase 3 bound to lipoyl domain 2 of human pyruvate dehydrogenase complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

A combined linkage-physical map of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Essential roles of lipoyl domains in the activated function and control of pyruvate dehydrogenase kinases and phosphatase isoform 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Development of the Functional Dexterity Test (FDT): construction, validity, reliability, and normative data.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Site specificity of four pyruvate dehydrogenase kinase isoenzymes toward the three phosphorylation sites of human pyruvate dehydrogenase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

A trail of research from lipoic acid to alpha-keto acid dehydrogenase complexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Marked differences between two isoforms of human pyruvate dehydrogenase kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Evidence for existence of tissue-specific regulation of the mammalian pyruvate dehydrogenase complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Faster sequential genetic linkage computations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Connexin mutations in X-linked Charcot-Marie-Tooth disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Strategies for multilocus linkage analysis in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Regulation of mammalian pyruvate and branched-chain alpha-keto acid dehydrogenase complexes by phosphorylation-dephosphorylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Pyruvate oxidation in Charcot-Marie-Tooth disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596851

20 June 2018

Employment profiles in neuromuscular diseases.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS557

21 January 2018

A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS557

21 January 2018

Reliability and validity of the CMT neuropathy score as a measure of disability.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS557

21 January 2018

Auditory function in individuals within Leber's hereditary optic neuropathy pedigrees

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS557

21 January 2018

Auditory function in children with Charcot-Marie-Tooth disease.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS557

21 January 2018

Adult Norms for a Commercially Available Nine Hole Peg Test for Finger Dexterity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS557

21 January 2018

Quantification of muscle strength and imbalance in neurogenic pes cavus, compared to health controls, using hand-held dynamometry.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS557

21 January 2018

Critical role of a lipoyl cofactor of the dihydrolipoyl acetyltransferase in the binding and enhanced function of the pyruvate dehydrogenase kinase

1 reference

https://pubmed.ncbi.nlm.nih.gov/23297365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Binding of the pyruvate dehydrogenase kinase to recombinant constructs containing the inner lipoyl domain of the dihydrolipoyl acetyltransferase component

1 reference

https://pubmed.ncbi.nlm.nih.gov/23297365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hip and ankle range of motion in elite classical ballet dancers and controls

1 reference

https://pubmed.ncbi.nlm.nih.gov/23297365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21

1 reference

https://pubmed.ncbi.nlm.nih.gov/23297365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aids to the investigation of peripheral nerve injuries. Medical Research Council: Nerve Injuries Research Committee. His Majesty's Stationery Office: 1942; pp. 48 (iii) and 74 figures and 7 diagrams; with aids to the examination of the peripheral ne

1 reference

https://pubmed.ncbi.nlm.nih.gov/23297365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDS557

1 reference

Europe PubMed Central

15 August 2017

1 reference

Europe PubMed Central

15 August 2017

1 reference

Europe PubMed Central

15 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q30537559&oldid=1639324526"