ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration
ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration
About this item
Full title
Author / Creator
Hirose, Takuo , Cabrera-Socorro, Alfredo , Chitayat, David , Lemonnier, Thomas , Féraud, Olivier , Cifuentes-Diaz, Carmen , Gervasi, Nicolas , Mombereau, Cedric , Ghosh, Tanay , Stoica, Loredana , Bacha, Jeanne d’Arc Al , Yamada, Hiroshi , Lauterbach, Marcel A. , Guillon, Marc , Kaneko, Kiriko , Norris, Joy W. , Siriwardena, Komudi , Blasér, Susan , Teillon, Jérémie , Mendoza-Londono, Roberto , Russeau, Marion , Hadoux, Julien , Ito, Sadayoshi , Corvol, Pierre , Matheus, Maria G. , Holden, Kenton R. , Takei, Kohji , Emiliani, Valentina , Bennaceur-Griscelli, Annelise , Schwartz, Charles E. , Nguyen, Genevieve and Groszer, Matthias
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
Vacuolar H+-ATPase-dependent (V-ATPase-dependent) functions are critical for neural proteostasis and are involved in neurodegeneration and brain tumorigenesis. We identified a patient with fulminant neurodegeneration of the developing brain carrying a de novo splice site variant in ATP6AP2 encoding an accessory protein of the V-ATPase. Functional s...
Alternative Titles
Full title
ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration
Authors, Artists and Contributors
Author / Creator
Cabrera-Socorro, Alfredo
Chitayat, David
Lemonnier, Thomas
Féraud, Olivier
Cifuentes-Diaz, Carmen
Gervasi, Nicolas
Mombereau, Cedric
Ghosh, Tanay
Stoica, Loredana
Bacha, Jeanne d’Arc Al
Yamada, Hiroshi
Lauterbach, Marcel A.
Guillon, Marc
Kaneko, Kiriko
Norris, Joy W.
Siriwardena, Komudi
Blasér, Susan
Teillon, Jérémie
Mendoza-Londono, Roberto
Russeau, Marion
Hadoux, Julien
Ito, Sadayoshi
Corvol, Pierre
Matheus, Maria G.
Holden, Kenton R.
Takei, Kohji
Emiliani, Valentina
Bennaceur-Griscelli, Annelise
Schwartz, Charles E.
Nguyen, Genevieve
Groszer, Matthias
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6486358
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6486358
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI79990
