ISCA2

Publications

Alaimo JT et al. Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion. Hum Mutat. 2018;39(4):537-549. doi: 10.1002/humu.23396. PMID: 29297947.

Alfadhel M et al. Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases. Eur J Paediatr Neurol. 2018 Jan;22(1):46-55. doi: 10.1016/j.ejpn.2017.10.003. PMID: 29122497.

Al-Hassnan ZN et al. ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. J Med Genet. 2015; 52(3):186-94. doi: 10.1136/jmedgenet-2014-102592. PMID: 25539947.

Alazami AM et al. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. PMID: 25558065.

Babiker MOE. Reverse phenotyping to further define a new mitochondrial depletion syndrome caused by an ISCA2 mutation: Commentary on: Alfadhel et al. Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases. Eur J Paediatr Neurol. 2018;22(1):4-5. doi: 10.1016/j.ejpn.2017.12.011. PMID: 29289521.

Finsterer J et al. ISCA2 mutations manifest differentially from DARS2 mutations. Metab Brain Dis. 2018;33(5):1389-1390. doi: 10.1007/s11011-018-0253-z. PMID: 29789987.

Lebigot E et al. Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients. Mol Genet Metab. 2017;122(3):85-94. doi: 10.1016/j.ymgme.2017.08.001. PMID: 28803783.

Toldo I et al. Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations. Metab Brain Dis. 2018 Jun;33(3):805-812. doi: 10.1007/s11011-017-0181-3. PMID: 29359243.