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Article

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.

Journal of neurology - 1 Jan 2017

Torraco Alessandra, Ardissone Anna, Invernizzi Federica, Rizza Teresa, Fiermonte Giuseppe, Niceta Marcello, Zanetti Nadia, Martinelli Diego, Vozza Angelo, Verrigni Daniela, Di Nottia Michela, Lamantea Eleonora, Diodato Daria, Tartaglia Marco, Dionisi-Vici Carlo, Moroni Isabella, Farina Laura, Bertini Enrico, Ghezzi Daniele, Carrozzo Rosalba

Abstract excerpt

Defects of the Fe/S cluster biosynthesis represent a subgroup of diseases affecting the mitochondrial energy metabolism. In the last years, mutations in four genes (NFU1, BOLA3, ISCA2 and IBA57) have been related to a new group of multiple mitochondrial dysfunction syndromes characterized by lactic acidosis, hyperglycinemia, multiple defects of the respiratory chain complexes, and impairment of four lipoic...

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Source

Identifiers

PMID: 27785568
DOI: 10.1007/s00415-016-8312-z

Genes

IBA57
BOLA3
ISCA2
NFU1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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