anti-Mitochondrially Encoded NADH Dehydrogenase 5 (MT-ND5) Antikörper

Human Mitochondrially Encoded NADH Dehydrogenase 5 (MT-ND5) Interaktionspartner

1. MT-ND5 mutation exhibits highly variable neurological manifestations.

2. Data suggest that mutations in MT-CO2 (zeige COX2 Antikörper) and MT-ND5 can be involved in MIDD (maternally inherited diabetes and deafness); a Tunisian family (mother, daughter, son) with clinical features of MIDD associated with retinopathy exhibit mutations in MT-CO2 (zeige COX2 Antikörper) (m.8241T>G - p. F219C) and MT-ND5 (m.13276G>A - p. M314V); these two mutations could explain retinopathy in some family members. (MT-CO2 (zeige COX2 Antikörper) = cytochrome c oxidase subunit II (zeige COX2 Antikörper))

3. A MELAS/Leigh syndrome phenotype caused by a mtDNA mutation [m.13513G>A; p.Asp393Asn] in the ND5 gene encoding the ND5 subunit of respiratory chain complex I was identified in a patient in a second family

4. FASTKD4 (zeige TBRG4 Antikörper) is required to promote expression of ND5. FASTKD4 (zeige TBRG4 Antikörper) may promote processing of ND5-CYB (zeige CSTB Antikörper) precursor or it may stabilize multiple mature RNAs including ND5.

5. The m.13565C>T mutation in MTND5 causes defects in both mitochondrial oxidative metabolism and mitochondrial calcium sequestration in a MELAS syndrome fibroblasts.

6. Mitochondrially encoded NADH dehydrogenase (zeige NDUFA1 Antikörper) subunit, complex I extracts energy from NADH, produced by the oxidation of sugars and fats (zeige C10ORF90 Antikörper), and traps the energy in a potential difference or voltage across the mitochondrial inner membrane.

7. Study demonstrates a link between p53 (zeige TP53 Antikörper) and Bcl-2 (zeige BCL2 Antikörper) proteins as regulators of ROS (zeige ROS1 Antikörper) production and cellular invasiveness, and reveals complex-I, especially ND5, as their functional target in lung tumor cells.

8. Three mutations were significantly related to the presence of epilepsy. These mutations were found at the 8502, 11994, and 13,231 bp of mtDNA, which resulted in amino acid changes at the MT-ATP-8 (zeige MT-ATP8 Antikörper), MT-ND4 (zeige MT-ND4 Antikörper) and MT-ND5 genes.

9. Point mutations m.10191T>C in mitochondrial ND3 (zeige MT-ND3 Antikörper) gene, m.13513G>A in ND5 gene and m.14,453G>A in ND6 (zeige MT-ND6 Antikörper) gene were detected in three Chinese children with Leigh synrome dur to complex I deficiency.

10. Mitochondrial ND5 12338T>C variant is associated with maternally inherited hypertrophic cardiomyopathy in a Chinese pedigree