Condition: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1


rs1354126704 in NFU1 gene and MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 PMID 22077971 2011 A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.

PMID 28906594 2017 Understanding the molecular basis for multiple mitochondrial dysfunctions syndrome 1 (MMDS1): impact of a disease-causing Gly189Arg substitution on NFU1.

PMID 25918518 2015 Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

PMID 21944046 2011 Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.

PMID 28161430 2017 Understanding the Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1)-Impact of a Disease-Causing Gly208Cys Substitution on Structure and Activity of NFU1 in the Fe/S Cluster Biosynthetic Pathway.