Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Gal Hacohen-Kleiman"'
Autor:
Mohiuddin Mohiuddin, Zlatko Marusic, Mirna Anicic, Van Dijck Anke, Elisa Cappuyns, Rizzuti Ludovico, Alessandro Vitriolo, Gal Hacohen Kleiman, Iris Grigg, Giuseppe Testa, Illana Gozes, R. Frank Kooy, Christopher E. Pearson
Many neurodevelopmental disorders, including autism, are caused by de novo mutations, that might arise as early as in the parental germline, during embryonic, fetal development, or as late as post-natal aging. Intra-tissue mutation-load variations co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5b146813d0e3cbd27f84e21ad2979dc0
https://doi.org/10.1101/2022.06.21.496616
https://doi.org/10.1101/2022.06.21.496616
Autor:
Nikolaus Grigoriadis, Gidon Karmon, Moran Rubinstein, Olga Touloumi, Roy Shi, Alexandra Lobyntseva, Pei You Wu, Eliezer Giladi, Oxana Kapitansky, Linxuan Huang, Björn Schuster, Petr Kasparek, Inbar Ben-Horin-Hazak, Illana Gozes, Radislav Sedlacek, Shlomo Sragovich, Metsada Pasmanik-Chor, R. Anne McKinney, Gal Hacohen-Kleiman, Noam Shomron, Sofia Zoidou, Markus M. Heimesaat, Stefan Bereswill, Guy Shapira, Paschalis Theotokis
Publikováno v:
Biological psychiatry. 92(1)
Background Activity-dependent neuroprotective protein (ADNP) is essential for embryonic development. As such, de novo ADNP mutations lead to an intractable autism/intellectual disability syndrome requiring investigation. Methods Mimicking humans, CRI
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c479db04d18a1ce0cc05b00146f5df0
https://pubmed.ncbi.nlm.nih.gov/35710162
https://pubmed.ncbi.nlm.nih.gov/35710162
Publikováno v:
Journal of molecular neuroscience : MN. 70(11)
The activity-dependent neuroprotective protein (ADNP) syndrome is an autistic-like disorder, instigated by mutations in ADNP. This syndrome is characterized by developmental delays, impairments in speech, motor function, abnormal hearing, and intelle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64d7e15335395c6201b40af9d38b4591
https://pubmed.ncbi.nlm.nih.gov/32926339
https://pubmed.ncbi.nlm.nih.gov/32926339
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7a3a13d54ce71e4c165e4bef574491b
https://doi.org/10.1172/jci98199
https://doi.org/10.1172/jci98199
Autor:
Roza Lagoudaki, Nikolaos Grigoriadis, Karen B. Avraham, Ofer Yizhar-Barnea, Illana Gozes, Olga Touloumi, Gal Hacohen-Kleiman
Publikováno v:
Neurochemical research. 44(6)
Autism is a wide spread neurodevelopmental disorder with growing morbidity rates, affecting more boys than girls worldwide. Activity-dependent neuroprotective protein (ADNP) was recently recognized as a leading gene accounted for 0.17% of autism spec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b670c8595da6fd7318daa768a7033ebf
https://pubmed.ncbi.nlm.nih.gov/30659505
https://pubmed.ncbi.nlm.nih.gov/30659505
Publikováno v:
Peptides. 72:75-79
ADNP is a protein necessary for brain development, important for brain plasticity, cognitive and social functioning, characteristics that are all impaired in autism and in the Adnp(+/-) mouse model, in a sex-dependent manner. ADNP was originally disc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9be71077548c94f813e5dfbf730a6cdb
https://doi.org/10.1016/j.peptides.2015.04.008
https://doi.org/10.1016/j.peptides.2015.04.008
Autor:
Anna Malishkevich, Yan Jouroukhin, Adva Yeheskel, Metsada Pasmanik-Chor, Eliezer Giladi, Shlomo Sragovich, Illana Gozes, Olga Touloumi, Roza Lagoudaki, N Amram, Nikolaos Grigoriadis, J Katz, Gal Hacohen-Kleiman
Publikováno v:
Molecular psychiatry. 21(10)
Activity-dependent neuroprotective protein (ADNP), essential for brain formation, is a frequent autism spectrum disorder (ASD)-mutated gene. ADNP associates with microtubule end-binding proteins (EBs) through its SxIP motif, to regulate dendritic spi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52c747064e222db04a83b6e4b8589f35
https://pubmed.ncbi.nlm.nih.gov/26782054
https://pubmed.ncbi.nlm.nih.gov/26782054
Autor:
Illana Gozes, Gidon Karmon, Elisa Cappuyns, Eliezer Giladi, Iris Grigg, Yankel Gabet, A Van Dijck, Michal Eger, R F Kooy, Metsada Pasmanik-Chor, Gal Hacohen-Kleiman, S Bedrosian-Sermone, O Elpeleg
Publikováno v:
Translational Psychiatry. 7:e1166-e1166
A major flaw in autism spectrum disorder (ASD) management is late diagnosis. Activity-dependent neuroprotective protein (ADNP) is a most frequent de novo mutated ASD-related gene. Functionally, ADNP protects nerve cells against electrical blockade. I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9a2c0b4b6e54d8ffb2d68d897d15d4d9
https://doi.org/10.1038/tp.2017.128
https://doi.org/10.1038/tp.2017.128
Publikováno v:
Translational Psychiatry
Activity-dependent neuroprotective protein (ADNP) is a most frequent autism spectrum disorder (ASD)-associated gene and the only protein significantly decreasing in the serum of Alzheimer's disease (AD) patients. Is ADNP associated with ASD being mor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::452184d7651732c3a6c921109ef9ed8c
https://pubmed.ncbi.nlm.nih.gov/25646590
https://pubmed.ncbi.nlm.nih.gov/25646590