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Year | Number of Results |
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2012 | 1 |
2014 | 1 |
2015 | 1 |
2017 | 1 |
2018 | 3 |
2024 | 0 |
PubMed (OMIM) for id: 122961
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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. Epub 2018 Jan 23.
Metab Brain Dis. 2018.
PMID: 29359243
Review.
Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.
Alaimo JT, Besse A, Alston CL, Pang K, Appadurai V, Samanta M, Smpokou P, McFarland R, Taylor RW, Bonnen PE.
Alaimo JT, et al.
Hum Mutat. 2018 Apr;39(4):537-549. doi: 10.1002/humu.23396. Epub 2018 Jan 22.
Hum Mutat. 2018.
PMID: 29297947
Free PMC article.
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Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.
Alfadhel M, Nashabat M, Alrifai MT, Alshaalan H, Al Mutairi F, Al-Shahrani SA, Plecko B, Almass R, Alsagob M, Almutairi FB, Al-Rumayyan A, Al-Twaijri W, Al-Owain M, Taylor RW, Kaya N.
Alfadhel M, et al.
Eur J Paediatr Neurol. 2018 Jan;22(1):46-55. doi: 10.1016/j.ejpn.2017.10.003. Epub 2017 Oct 16.
Eur J Paediatr Neurol. 2018.
PMID: 29122497
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ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
Al-Hassnan ZN, Al-Dosary M, Alfadhel M, Faqeih EA, Alsagob M, Kenana R, Almass R, Al-Harazi OS, Al-Hindi H, Malibari OI, Almutari FB, Tulbah S, Alhadeq F, Al-Sheddi T, Alamro R, AlAsmari A, Almuntashri M, Alshaalan H, Al-Mohanna FA, Colak D, Kaya N.
Al-Hassnan ZN, et al.
J Med Genet. 2015 Mar;52(3):186-94. doi: 10.1136/jmedgenet-2014-102592. Epub 2014 Dec 24.
J Med Genet. 2015.
PMID: 25539947
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The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation.
Sheftel AD, Wilbrecht C, Stehling O, Niggemeyer B, Elsässer HP, Mühlenhoff U, Lill R.
Sheftel AD, et al.
Mol Biol Cell. 2012 Apr;23(7):1157-66. doi: 10.1091/mbc.E11-09-0772. Epub 2012 Feb 9.
Mol Biol Cell. 2012.
PMID: 22323289
Free PMC article.
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