A Deficit of ATP-ase Subunit 8: with Contribution for Two New Cases
In two consanguineous children brother and sister were reported rare mitochondrial disorder caused by mutation of the gene of MT-ATP8: base change T8412C, with aminoacid change: methionin - threonine which wasthe cause for decreased activity of the synthesized protein (enzyme) and to dysfunction of...
Main Authors: | Naumova E., Mihailova S., Radeva B., Stancheva M. |
---|---|
Format: | Article |
Language: | English |
Published: |
Academic Publishing House
2007-12-01
|
Series: | Bioautomation |
Subjects: | |
Online Access: | http://www.clbme.bas.bg/bioautomation/2007/vol_8.1/files/8_3.5.pdf |
Similar Items
-
ATP Synthase Diseases of Mitochondrial Genetic Origin
by: Alain Dautant, et al.
Published: (2018-04-01) -
Probing the pathogenicity of patient-derived variants of MT-ATP6 in yeast
by: Emilia Baranowska, et al.
Published: (2023-04-01) -
Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies
by: Valentina Del Dotto, et al.
Published: (2024-02-01) -
The contribution of mitochondrial DNA alterations to aging, cancer, and neurodegeneration
by: Anna Picca, et al.
Published: (2023-07-01) -
Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation
by: Tzu-Hsuan Su, et al.
Published: (2022-11-01)