New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.

2-Aminoadipic Acid / analogs & derivatives Aldehyde Dehydrogenase / deficiency Epilepsy / genetics Humans Lysine / analogs & derivatives Metabolic Networks and Pathways Pipecolic Acids / metabolism Vitamin B 6 / therapeutic use
antiquitin lysine catabolism pipecolic acid saccharopine α-Aminoadipic semialdehyde

Journal

Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918

Informations de publication

Date de publication:
07 2019
Historique:
received: 06 07 2018
accepted: 12 02 2019
pubmed: 16 2 2019
medline: 31 7 2020
entrez: 16 2 2019
Statut: ppublish

Résumé

Deficiency of antiquitin (ATQ), an enzyme involved in lysine degradation, is the major cause of vitamin B

Identifiants

DOI: 10.1002/jimd.12076 PMID: 30767241
pubmed: 30767241
doi: 10.1002/jimd.12076
doi:

Substances chimiques

Pipecolic Acids 0
2-Aminoadipic Acid 1K7B1OED4N
allysine 425I4Y24YZ
Vitamin B 6 8059-24-3
ALDH7A1 protein, human EC 1.2.1.3
Aldehyde Dehydrogenase EC 1.2.1.3
pipecolic acid H254GW7PVV
Lysine K3Z4F929H6
saccharopine WBQ73O8W32

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

620-628

Informations de copyright

© 2019 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.

Auteurs

Lisa M Crowther (LM)

Division of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.
CRC Clinical Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
Radiz - Rare Disease Intiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland.
ORCID: 0000-0002-8640-3884

Déborah Mathis (D)

CRC Clinical Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
Radiz - Rare Disease Intiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland.
Department of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, Zurich, Switzerland.

Martin Poms (M)

Division of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.
CRC Clinical Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
Radiz - Rare Disease Intiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland.

Barbara Plecko (B)

Division of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.
CRC Clinical Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
Radiz - Rare Disease Intiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland.
Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria.

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Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Acides aminés › Acides aminés dicarboxyliques › Acide 2-amino-adipique › New insights into human lysine degradation...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Oxidoreductases › Oxidoreductases acting on aldehyde or oxo group donors › Aldehyde oxidoreductases › Aldehyde dehydrogenase › New insights into human lysine degradation...
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › New insights into human lysine degradation...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › New insights into human lysine degradation...
questionsmedicales.fr › Acides aminés, peptides et protéines › Acides aminés › Acides aminés essentiels › Lysine › New insights into human lysine degradation...
questionsmedicales.fr › Métabolisme › Voies et réseaux métaboliques › New insights into human lysine degradation...
questionsmedicales.fr › Composés hétérocycliques › Composés hétéromonocycliques › Pipéridines › Acides pipécoliques › New insights into human lysine degradation...
questionsmedicales.fr › Composés hétérocycliques › Composés hétéromonocycliques › Pyridines › Picolines › Vitamine B6 › New insights into human lysine degradation...