Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Alicia Guemez-Gamboa"'
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract PACS1 syndrome is a neurodevelopmental disorder characterized by intellectual disability and distinct craniofacial abnormalities resulting from a de novo p.R203W variant in phosphofurin acidic cluster sorting protein 1 (PACS1). PACS1 is know
Externí odkaz:
https://doaj.org/article/2890d7880e47413781d999c1de898440
Publikováno v:
STAR Protocols, Vol 5, Iss 1, Pp 102904- (2024)
Summary: Neurodevelopmental disorders are characterized by complex phenotypes that often result from concomitant dysregulation of cell proliferation, differentiation, or other crucial developmental processes. Here, we present a protocol to quantify d
Externí odkaz:
https://doaj.org/article/08c687bbdb8e4128bbcf5421a8463593
Autor:
Jennifer Rakotomamonjy, Lauren Rylaarsdam, Lucas Fares-Taie, Sean McDermott, Devin Davies, George Yang, Fikayo Fagbemi, Maya Epstein, Martín Fairbanks-Santana, Jean-Michel Rozet, Alicia Guemez-Gamboa
Publikováno v:
Cell Reports, Vol 42, Iss 8, Pp 112845- (2023)
Summary: Protocadherins (PCDHs) are cell adhesion molecules that regulate many essential neurodevelopmental processes related to neuronal maturation, dendritic arbor formation, axon pathfinding, and synaptic plasticity. Biallelic loss-of-function var
Externí odkaz:
https://doaj.org/article/a5c3b350dc4b4443be333218fe024042
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Externí odkaz:
https://doaj.org/article/ea62fa1ea66d4b1995891759b3d36d4b
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 13 (2019)
Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous and may be caused by both inheritable and de novo gene variations. In the past
Externí odkaz:
https://doaj.org/article/fd1f1a23350143fba5bb82162d26d81e
Autor:
Jennifer Rakotomamonjy, Lauren Rylaarsdam, Lucas Fares-Taie, Sean McDermott, Devin Davies, George Yang, Fikayo Fagbemi, Maya Epstein, Alicia Guemez-Gamboa
Publikováno v:
bioRxiv
SummaryProtocadherins (PCDHs) are cell adhesion molecules that regulate many essential neurodevelopmental processes related to neuronal maturation, dendritic arbor formation, axon pathfinding, and synaptic plasticity. Bi-allelic loss-of-function vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbdfbfa31ed35337d15254fc84af6ed3
https://europepmc.org/articles/PMC9881913/
https://europepmc.org/articles/PMC9881913/
PACS1 syndrome is a neurodevelopmental disorder characterized by intellectual disability and craniofacial abnormalities resulting from ade novop.R203W variant in phosphofurin acidic cluster sorting protein 1 (PACS1). PACS1 plays roles in the endosoma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b20ec26fb32b487db6688b5aff7cfac3
https://doi.org/10.1101/2022.05.13.491892
https://doi.org/10.1101/2022.05.13.491892
Publikováno v:
Trends in genetics : TIG. 38(2)
Rare diseases affect nearly 400 million people worldwide and have a devastating impact on patients and families. Although these diseases are collectively common, they are often overlooked by the research community. We present the ongoing work of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8208e86286268663c0ad8fd5aab9972
https://pubmed.ncbi.nlm.nih.gov/34836651
https://pubmed.ncbi.nlm.nih.gov/34836651
Autor:
Elizabeth Roeder, Simone Mandelstam, Alicia Guemez-Gamboa, Ingrid E. Scheffer, Satoko Kumada, Emily Bryant, Lance H. Rodan, Berkley Schmidt, Jessica Giannelli, Kyle R Christensen, Kirsty McWalter, Kazuhiro Iwama, John Millichap, Alison M. Muir, Egidio Spinelli, Tiziano Pisano, Heather C Mefford, Linda Laux, Renzo Guerrini, Eva H. Brilstra, Rebecca O. Littlejohn, Amy L Schneider, Carmen Barba, Gemma L. Carvill, Naomichi Matsumoto, Elysa J. Marco, Angus C. Nairn, William G. Wilson, Jennifer Rakotomamonjy, Richard H. van Jaarsveld
ObjectiveThe MAST family of microtubule-associated serine-threonine kinases (STK) have distinct expression patterns in the developing and mature human and mouse brain. To date, only MAST1 has been associated with neurological disease, with de novo va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::32f1eb573df871ce718e8a420d82fdea
https://doi.org/10.1101/2021.03.09.434675
https://doi.org/10.1101/2021.03.09.434675
Publikováno v:
Neuron. 107(1)
Loss-of-function variants in the PYRC2 gene cause hypomyelinating leukodystrophy 10 (HLD10), but the associated pathogenic mechanisms are unknown. In this issue of Neuron, Escande-Beillard et al. (2020) reveal that PYRC2 is a key enzyme for proper br
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d42bae89eda5b5c8ff646d2a85fdfed6
https://pubmed.ncbi.nlm.nih.gov/32330411
https://pubmed.ncbi.nlm.nih.gov/32330411