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Article

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.

American journal of human genetics - 6 Oct 2016

Kremer Laura S, Danhauser Katharina, Herebian Diran, Petkovic Ramadža Danijela, Piekutowska-Abramczuk Dorota, Seibt Annette, Müller-Felber Wolfgang, Haack Tobias B, Płoski Rafał, Lohmeier Klaus, Schneider Dominik, Klee Dirk, Rokicki Dariusz, Mayatepek Ertan, Strom Tim M, Meitinger Thomas, Klopstock Thomas, Pronicka Ewa, Mayr Johannes A, Baric Ivo, Distelmaier Felix, Prokisch Holger

Abstract excerpt

To safeguard the cell from the accumulation of potentially harmful metabolic intermediates, specific repair mechanisms have evolved. APOA1BP, now renamed NAXE, encodes an epimerase essential in the cellular metabolite repair for NADHX and NADPHX. The enzyme catalyzes the epimerization of NAD(P)HX, thereby avoiding the accumulation of toxic metabolites. The clinical importance of the NAD(P)HX repair system has...

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Fatal Outcome
Fibroblasts
Metabolic Diseases
NAD

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nervous System Diseases

Racemases and Epimerases

Skin Abnormalities

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Identifiers

PMID: 27616477
DOI: 10.1016/j.ajhg.2016.07.018
PMCID: PMC5065653

Genes

NAXE

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NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.PMID 27616477Read ↗

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