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Items: 3

1.
Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1
Anju Shukla, Parneet Kaur, Katta M. Girisha
J Pediatr Genet. 2018 Sep; 7(3): 130–133. Published online 2018 Apr 5. doi: 10.1055/s-0038-1641177
PMCID:
PMC6087475
AbstractArticlePDF–139K
2.
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome
Anju Shukla, Malavika Hebbar, Anshika Srivastava, Rajagopal Kadavigere, Priyanka Upadhyai, Anil Kanthi, Oliver Brandau, Stephanie Bielas, Katta M Girisha
J Hum Genet. Author manuscript; available in PMC 2017 Sep 30.
Published in final edited form as: J Hum Genet. 2017 Jul; 62(7): 723–727. Published online 2017 Mar 30. doi: 10.1038/jhg.2017.35
PMCID:
PMC5484744
AbstractArticlePDF–368K
3.
The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation
Alex D. Sheftel, Claudia Wilbrecht, Oliver Stehling, Brigitte Niggemeyer, Hans-Peter Elsässer, Ulrich Mühlenhoff, Roland Lill
Mol Biol Cell. 2012 Apr 1; 23(7): 1157–1166. doi: 10.1091/mbc.E11-09-0772
PMCID:
PMC3315811
AbstractArticlePDF–3.1M

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