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The ADNP Syndrome and CP201 (NAP) Potential and Hope

Activity-dependent neuroprotective protein (ADNP) syndrome, also known as Helsmoortel-Van Der Aa syndrome, is a rare condition, which is diagnosed in children exhibiting signs of autism. Specifically, the disease is suspected when a child is suffering from developmental delay and/or intellectual dis...

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Autor principal: Gozes, Illana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7732499/
https://www.ncbi.nlm.nih.gov/pubmed/33329371
http://dx.doi.org/10.3389/fneur.2020.608444
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author Gozes, Illana
author_facet Gozes, Illana
author_sort Gozes, Illana
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description Activity-dependent neuroprotective protein (ADNP) syndrome, also known as Helsmoortel-Van Der Aa syndrome, is a rare condition, which is diagnosed in children exhibiting signs of autism. Specifically, the disease is suspected when a child is suffering from developmental delay and/or intellectual disability. The syndrome occurs when one of the two copies of the ADNP gene carries a pathogenic sequence variant, mostly a de novo mutation resulting in loss of normal functions. Original data showed that Adnp(+/−) mice suffer from learning and memory deficiencies, muscle weakness, and communication problems. Further studies showed that the ADNP microtubule-interacting fragment NAP (called here CP201) resolves, in part, Adnp deficiencies and protects against ADNP pathogenic sequence variant abnormalities. With a clean toxicology and positive human adult experience, CP201 is planned for future clinical trials in the ADNP syndrome.
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spelling pubmed-77324992020-12-15 The ADNP Syndrome and CP201 (NAP) Potential and Hope Gozes, Illana Front Neurol Neurology Activity-dependent neuroprotective protein (ADNP) syndrome, also known as Helsmoortel-Van Der Aa syndrome, is a rare condition, which is diagnosed in children exhibiting signs of autism. Specifically, the disease is suspected when a child is suffering from developmental delay and/or intellectual disability. The syndrome occurs when one of the two copies of the ADNP gene carries a pathogenic sequence variant, mostly a de novo mutation resulting in loss of normal functions. Original data showed that Adnp(+/−) mice suffer from learning and memory deficiencies, muscle weakness, and communication problems. Further studies showed that the ADNP microtubule-interacting fragment NAP (called here CP201) resolves, in part, Adnp deficiencies and protects against ADNP pathogenic sequence variant abnormalities. With a clean toxicology and positive human adult experience, CP201 is planned for future clinical trials in the ADNP syndrome. Frontiers Media S.A. 2020-11-24 /pmc/articles/PMC7732499/ /pubmed/33329371 http://dx.doi.org/10.3389/fneur.2020.608444 Text en Copyright © 2020 Gozes. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Gozes, Illana
The ADNP Syndrome and CP201 (NAP) Potential and Hope
title The ADNP Syndrome and CP201 (NAP) Potential and Hope
title_full The ADNP Syndrome and CP201 (NAP) Potential and Hope
title_fullStr The ADNP Syndrome and CP201 (NAP) Potential and Hope
title_full_unstemmed The ADNP Syndrome and CP201 (NAP) Potential and Hope
title_short The ADNP Syndrome and CP201 (NAP) Potential and Hope
title_sort adnp syndrome and cp201 (nap) potential and hope
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7732499/
https://www.ncbi.nlm.nih.gov/pubmed/33329371
http://dx.doi.org/10.3389/fneur.2020.608444
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