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Article

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.

Human molecular genetics - 1 Aug 2018

Torraco Alessandra, Stehling Oliver, Stümpfig Claudia, Rösser Ralf, De Rasmo Domenico, Fiermonte Giuseppe, Verrigni Daniela, Rizza Teresa, Vozza Angelo, Di Nottia Michela, Diodato Daria, Martinelli Diego, Piemonte Fiorella, Dionisi-Vici Carlo, Bertini Enrico, Lill Roland, Carrozzo Rosalba

Abstract excerpt

Multiple mitochondrial dysfunction syndromes (MMDS) comprise a group of severe autosomal recessive diseases characterized by impaired respiration and lipoic acid metabolism, resulting in infantile-onset mitochondrial encephalopathy, non-ketotic hyperglycinemia, myopathy, lactic acidosis and early death. Four different MMDS have been analyzed in detail according to the genes involved in the disease, MMDS1 (NFU1),...

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Source

Identifiers

PMID: 29767723
DOI: 10.1093/hmg/ddy183

Genes

ISCA1
BOLA3
IBA57
ISCA2
NFU1

Variants

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.

Related research

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ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.PMID 29767723Read ↗

Expanding the phenotype of mitochondrial disease: Novel pathogenic variant in ISCA1 leading to instability of the iron-sulfur cluster in the protein.Semantic proximity Read ↗

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.Semantic proximity Read ↗

Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.Semantic proximity Read ↗

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Homozygous c.259G>A variant in <i>ISCA1</i> is associated with a new multiple mitochondrial dysfunctions syndromeSemantic proximity Read ↗

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