TY  - GEN
AU  - Du,Xiaofei
AU  - Carvalho-de-Souza,Joao L
AU  - Wei,Cenfu
AU  - Carrasquel-Ursulaez,Willy
AU  - Lorenzo,Yenisleidy
AU  - Gonzalez,Naileth
AU  - Kubota,Tomoya
AU  - Staisch,Julia
AU  - Hain,Timothy
AU  - Petrossian,Natalie
AU  - Xu,Michael
AU  - Latorre,Ramon
AU  - Bezanilla,Francisco
AU  - Gomez,Christopher M
TI  - Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia
SN  - 1091-6490
PY  - 2020///0713
KW  - Adolescent
KW  - Animals
KW  - Animals, Newborn
KW  - Cell Line
KW  - Cerebellum
KW  - cytology
KW  - Chlorzoxazone
KW  - administration & dosage
KW  - DNA Mutational Analysis
KW  - Dependovirus
KW  - genetics
KW  - Disease Models, Animal
KW  - Female
KW  - Gene Knockdown Techniques
KW  - Genetic Vectors
KW  - Humans
KW  - Large-Conductance Calcium-Activated Potassium Channel alpha Subunits
KW  - antagonists & inhibitors
KW  - Loss of Function Mutation
KW  - Mice
KW  - Mitochondria
KW  - pathology
KW  - Oocytes
KW  - Rats
KW  - Recombinant Proteins
KW  - Spinocerebellar Degenerations
KW  - diagnosis
KW  - Transfection
KW  - Exome Sequencing
KW  - Xenopus
N1  - 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
UR  - https://doi.org/10.1073/pnas.1920008117
ER  -