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Article

Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.

Journal of inherited metabolic disease - 1 Sept 2013

Ferrer-Cortès Xènia, Font Aida, Bujan Núria, Navarro-Sastre Aleix, Matalonga Leslie, Arranz José Antonio, Riudor Encarnació, del Toro Mireia, Garcia-Cazorla Angels, Campistol Jaume, Briones Paz, Ribes Antonia, Tort Frederic

Abstract excerpt

Cofactor disorders of mitochondrial energy metabolism are a heterogeneous group of diseases with a wide variety of clinical symptoms, particular metabolic profiles and variable enzymatic defects. Mutations in NFU1 were recently identified in patients with fatal encephalopathy displaying a biochem...

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Source

Identifiers

PMID: 23179554
DOI: 10.1007/s10545-012-9565-z

Genes

NFU1
SDHA
SDHB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23179554-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.PMID 23179554Read ↗

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