Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Andy Y. L. Gao"'
Publikováno v:
Frontiers in Physiology, Vol 13 (2022)
Endomembrane alkali cation (Na+, K+)/proton (H+) exchangers (eNHEs) are increasingly associated with neurological disorders. These eNHEs play integral roles in regulating the luminal pH, processing, and trafficking of cargo along the secretory (Golgi
Externí odkaz:
https://doaj.org/article/1500ff46b15248199dfdb11cf09c58c5
Autor:
Andy Y. L. Gao, Illana Gozes, Iris Grigg, Gidon Karmon, Albert Le, Vlasta Korenková, Shlomo Sragovich, Gal Hacohen-Kleiman, Metsada Pasmanik-Chor, R. Anne McKinney
Publikováno v:
Journal of Clinical Investigation. 128:4956-4969
Previous findings showed that in mice, complete knockout of activity-dependent neuroprotective protein (ADNP) abolishes brain formation, while haploinsufficiency (Adnp+/–) causes cognitive impairments. We hypothesized that mutations in ADNP lead to
Autor:
Andy Y. L. Gao, Jaeok Park, John Orlowski, Alina Ilie, Mariëtte J.V. Hoffer, Albert M. Berghuis, Annie Boucher, R. Anne McKinney, Yvonne Hilhorst-Hofstee
Publikováno v:
Neurobiology of Disease, 121, 187-204
Neurobiology of Disease, Vol 121, Iss, Pp 187-204 (2019)
Neurobiology of Disease, Vol 121, Iss, Pp 187-204 (2019)
Loss-of-function mutations in the recycling endosomal (Na+,K+)/H+ exchanger gene SLC9A6/NHE6 result in overacidification and dysfunction of endosomal-lysosomal compartments, and cause a neurodevelopmental and degenerative form of X-linked intellectua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b31ba5c9921b9ef82531bc3ad1506ee
https://doi.org/10.1016/j.nbd.2018.10.002
https://doi.org/10.1016/j.nbd.2018.10.002
Publikováno v:
Neurobiology of Disease, Vol 130, Iss, Pp 104490-(2019)
Christianson Syndrome is a rare but increasingly diagnosed X-linked intellectual disability disorder that arises from mutations in SLC9A6/NHE6, a pH-regulating transporter that localizes to early and recycling endosomes. We have recently reported tha
Autor:
Nour Malek, Eva G. Krumhuber, Ridha Joober, Julio Martinez-Trujillo, Daniel S. Messinger, Andy Y. L. Gao, Karim Tabbane
Publikováno v:
Journal of Vision. 16:158
Autor:
Ridha Joober, Andy Y. L. Gao, Daniel S. Messinger, Julio Martinez-Trujillo, Nour Malek, Karim Tabbane
Publikováno v:
Journal of Vision. 15:1047
Autor:
Jonathan Reid, Annie Boucher, Herve Barriere, R. Anne McKinney, Alina Ilie, Cassandra McEwan, Andy Y. L. Gao, Gergely L. Lukacs, John Orlowski
Publikováno v:
Molecular Neurodegeneration
Background Christianson Syndrome, a recently identified X-linked neurodevelopmental disorder, is caused by mutations in the human gene SLC9A6 encoding the recycling endosomal alkali cation/proton exchanger NHE6. The patients have pronounced limitatio