Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Gidon Karmon"'
Autor:
Maram Ganaiem, Nina D. Gildor, Shula Shazman, Gidon Karmon, Yanina Ivashko-Pachima, Illana Gozes
Publikováno v:
Cells, Vol 12, Iss 18, p 2251 (2023)
(1) Background: Recently, we showed aberrant nuclear/cytoplasmic boundaries/activity-dependent neuroprotective protein (ADNP) distribution in ADNP-mutated cells. This malformation was corrected upon neuronal differentiation by the ADNP-derived fragme
Externí odkaz:
https://doaj.org/article/2c21c8291117417285f4565d6d88effa
Publikováno v:
Cells, Vol 11, Iss 19, p 2994 (2022)
(1) Background: Activity-dependent neuroprotective protein (ADNP) is essential for neuronal structure and function. Multiple de novo pathological mutations in ADNP cause the autistic ADNP syndrome, and they have been further suggested to affect Alzhe
Externí odkaz:
https://doaj.org/article/468d079240104896a3dbf5bf01ce6ae6
Autor:
Oxana Kapitansky, Gidon Karmon, Shlomo Sragovich, Adva Hadar, Meishar Shahoha, Iman Jaljuli, Lior Bikovski, Eliezer Giladi, Robert Palovics, Tal Iram, Illana Gozes
Publikováno v:
Cells, Vol 9, Iss 10, p 2320 (2020)
Activity-dependent neuroprotective protein (ADNP) mutations are linked with cognitive dysfunctions characterizing the autistic-like ADNP syndrome patients, who also suffer from delayed motor maturation. We thus hypothesized that ADNP is deregulated i
Externí odkaz:
https://doaj.org/article/e137fe21041343e998644b9b6649748e
Autor:
Yanina Ivashko-Pachima, Maram Ganaiem, Inbar Ben-Horin-Hazak, Alexandra Lobyntseva, Naomi Bellaiche, Inbar Fischer, Gilad Levy, Shlomo Sragovich, Gidon Karmon, Eliezer Giladi, Shula Shazman, Boaz Barak, Illana Gozes
Publikováno v:
Molecular psychiatry. 27(8)
De novo heterozygous mutations in activity-dependent neuroprotective protein (ADNP) cause autistic ADNP syndrome. ADNP mutations impair microtubule (MT) function, essential for synaptic activity. The ADNP MT-associating fragment NAPVSIPQ (called NAP)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04fc212f032df1c0af1bc28f662bc427
https://pubmed.ncbi.nlm.nih.gov/35538192
https://pubmed.ncbi.nlm.nih.gov/35538192
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
Autor:
Iris Grigg, Oxana Kapitansky, Illana Gozes, Gidon Karmon, R.F. Kooy, Michael Gershovits, Adva Hadar, Yanina Ivashko-Pachima, Johannes Attems, Korenkova, David Gurwitz, Carmen Laura Sayas
Publikováno v:
Molecular psychiatry
Molecular Psychiatry
Molecular Psychiatry
With Alzheimer’s disease (AD) exhibiting reduced ability of neural stem cell renewal, we hypothesized that de novo mutations controlling embryonic development, in the form of brain somatic mutations instigate the disease. A leading gene presenting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2efaac4256f9ec96bb7a5ff72d698bf
https://repository.uantwerpen.be/docstore/d:irua:160
https://repository.uantwerpen.be/docstore/d:irua:160
Autor:
Gidon Karmon, Eliezer Giladi, Lior Bikovski, Adva Hadar, Iman Jaljuli, Illana Gozes, Shlomo Sragovich, Tal Iram, Róbert Pálovics, Oxana Kapitansky, Meishar Shahoha
Publikováno v:
Cells, Vol 9, Iss 2320, p 2320 (2020)
Cells
Volume 9
Issue 10
Cells
Volume 9
Issue 10
Activity-dependent neuroprotective protein (ADNP) mutations are linked with cognitive dysfunctions characterizing the autistic-like ADNP syndrome patients, who also suffer from delayed motor maturation. We thus hypothesized that ADNP is deregulated i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0a85f0fed5d1aa5596301ea39d9b247
https://www.mdpi.com/2073-4409/9/10/2320
https://www.mdpi.com/2073-4409/9/10/2320
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:
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