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
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Author / Creator
Hirose, Takuo , Cabrera-Socorro, Alfredo , Chitayat, David , Lemonnier, Thomas , Féraud, Olivier , Cifuentes-Diaz, Carmen , Gervasi, Nicolas , Mombereau, Cedric , Ghosh, Tanay , Stoica, Loredana , Al Bacha, Jeanne d'Arc , 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
Ann Arbor: American Society for Clinical Investigation
Journal title
Language
English
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Publication information
Publisher
Ann Arbor: 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
Al Bacha, Jeanne d'Arc
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_proquest_journals_2224303558
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2224303558
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI79990.
