Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia.
Du, Xiaofei
Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia. [electronic resource] - Proceedings of the National Academy of Sciences of the United States of America 03 2020 - 6023-6034 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
1091-6490
10.1073/pnas.1920008117 doi
Adolescent
Animals
Animals, Newborn
Cell Line
Cerebellum--cytology
Chlorzoxazone--administration & dosage
DNA Mutational Analysis
Dependovirus--genetics
Disease Models, Animal
Female
Gene Knockdown Techniques
Genetic Vectors--genetics
Humans
Large-Conductance Calcium-Activated Potassium Channel alpha Subunits--antagonists & inhibitors
Loss of Function Mutation
Mice
Mitochondria--pathology
Oocytes
Rats
Recombinant Proteins--genetics
Spinocerebellar Degenerations--diagnosis
Transfection
Exome Sequencing
Xenopus
Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia. [electronic resource] - Proceedings of the National Academy of Sciences of the United States of America 03 2020 - 6023-6034 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
1091-6490
10.1073/pnas.1920008117 doi
Adolescent
Animals
Animals, Newborn
Cell Line
Cerebellum--cytology
Chlorzoxazone--administration & dosage
DNA Mutational Analysis
Dependovirus--genetics
Disease Models, Animal
Female
Gene Knockdown Techniques
Genetic Vectors--genetics
Humans
Large-Conductance Calcium-Activated Potassium Channel alpha Subunits--antagonists & inhibitors
Loss of Function Mutation
Mice
Mitochondria--pathology
Oocytes
Rats
Recombinant Proteins--genetics
Spinocerebellar Degenerations--diagnosis
Transfection
Exome Sequencing
Xenopus