Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism.

Adolescent Female Humans Male Mutation Optic Atrophy / drug therapy Phosphotransferases (Alcohol Group Acceptor) / genetics Polyneuropathies / drug therapy Pyridoxal Kinase / metabolism Pyridoxal Phosphate / therapeutic use Vitamin B 6 / metabolism
PDXK hereditary neuropathy optic atrophy pyridoxal kinase pyridoxal phosphate vitamin B6

Journal

Neuromuscular disorders : NMD
ISSN: 1873-2364
Titre abrégé: Neuromuscul Disord
Pays: England
ID NLM: 9111470

Informations de publication

Date de publication:
07 2020
Historique:
received: 18 02 2020
revised: 07 04 2020
accepted: 21 04 2020
pubmed: 12 6 2020
medline: 12 8 2021
entrez: 12 6 2020
Statut: ppublish

Résumé

PDXK encodes for a pyridoxal kinase, which converts inactive B

Identifiants

DOI: 10.1016/j.nmd.2020.04.004 PMID: 32522499
pubmed: 32522499
pii: S0960-8966(20)30096-1
doi: 10.1016/j.nmd.2020.04.004
pii:
doi:

Substances chimiques

Pyridoxal Phosphate 5V5IOJ8338
Vitamin B 6 8059-24-3
PDXK protein, human EC 2.7.1.-
Phosphotransferases (Alcohol Group Acceptor) EC 2.7.1.-
Pyridoxal Kinase EC 2.7.1.35

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

583-589

Informations de copyright

Copyright © 2020 Elsevier B.V. All rights reserved.

Auteurs

Natalie Keller (N)

Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.

Natalia Mendoza-Ferreira (N)

Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.

Reza Maroofian (R)

Molecular and Clinical Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

Viorica Chelban (V)

Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK; Department of Neurology and Neurosurgery, Institute of Emergency Medicine, Toma Ciorbă 1, 2052 Chisinau, Republic of Moldova.

Youssef Khalil (Y)

Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1E 6BT, UK.

Philippa B Mills (PB)

Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1E 6BT, UK.

Reza Boostani (R)

Neurology Dept., Ghaem Hospital, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran.

Paria Najarzadeh Torbati (PN)

Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad 009851, Iran.

Ehsan Ghayoor Karimiani (EG)

Molecular and Clinical Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK; Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad 009851, Iran.

Holger Thiele (H)

Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.

Henry Houlden (H)

Molecular and Clinical Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

Brunhilde Wirth (B)

Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.

Mert Karakaya (M)

Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany. Electronic address: mert.karakaya@uk-koeln.de.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Hereditary polyneuropathy with optic atrophy...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Hereditary polyneuropathy with optic atrophy...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Hereditary polyneuropathy with optic atrophy...
questionsmedicales.fr › Maladies de l'oeil › Atteintes du nerf optique › Atrophie optique › Hereditary polyneuropathy with optic atrophy...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Transferases › Phosphotransferases › Phosphotransferases (Alcohol Group Acceptor) › Hereditary polyneuropathy with optic atrophy...
questionsmedicales.fr › Maladies du système nerveux › Maladies neuromusculaires › Neuropathies périphériques › Polyneuropathies › Hereditary polyneuropathy with optic atrophy...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Transferases › Phosphotransferases › Phosphotransferases (Alcohol Group Acceptor) › Pyridoxal kinase › Hereditary polyneuropathy with optic atrophy...
questionsmedicales.fr › Enzymes et coenzymes › Coenzymes › Phosphate de pyridoxal › Hereditary polyneuropathy with optic atrophy...
questionsmedicales.fr › Composés hétérocycliques › Composés hétéromonocycliques › Pyridines › Picolines › Vitamine B6 › Hereditary polyneuropathy with optic atrophy...