| Abed Rabbo M, Stiban J (2022) NUBPL: a mitochondrial Complex I deficiency disorder. Bioenerg Commun 2022.3. https://doi.org/10.26124/bec:2022-0003 |
» Bioenerg Commun 2022.3. 
published online 2022-06-28 
Abed Rabbo Muna, Stiban Johnny (2022) Bioenerg Commun
Abstract: 
https://doi.org/10.26124/bec:2022-0003
Mitochondrial ailments are diverse and devastating. Defects in mitochondrial DNA or its products lead to a wide range of deficiencies in the mitochondrial electron transfer system and its ensuing energy transformation. Accessory proteins required for the assembly and function of the respiratory complexes are also required for healthy, coupled, and energy-transforming mitochondria. Recently, the protein nucleotide-binding protein-like (NUBPL or IND1) was identified as an iron-sulfur cluster transfer protein specifically for Complex I. Since the presence of multiple iron-sulfur clusters in Complex I is necessary for its activity, deficiency in NUBPL leads to severely dysfunctional mitochondria, with upregulated compensatory Complex II activity. Here we present a short review of the debilitating disease related to NUBPL deficiency.
• Keywords: Complex I, NUBPL, IND1, iron-sulfur clusters, mtDNA helicase, bioenergetics
• Bioblast editor: Tindle-Solomon Lisa
ORCID: 
Stiban Johnny
Preprint
Labels: MiParea: nDNA;cell genetics
Pathology: Inherited
Organism: Human Tissue;cell: Heart, Skeletal muscle, Nervous system, Liver
BEC
