Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Judith A. Tello"'
Publikováno v:
Neural Development, Vol 18, Iss 1, Pp 1-28 (2023)
Abstract Background CASK-related neurodevelopmental disorders are untreatable. Affected children show variable severity, with microcephaly, intellectual disability (ID), and short stature as common features. X-linked human CASK shows dosage sensitivi
Externí odkaz:
https://doaj.org/article/deed1e44ec8744d5aee0b9ac615b408e
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
Neurodegenerative diseases represent a formidable challenge to global health. As advances in other areas of medicine grant healthy living into later decades of life, aging diseases such as Alzheimer's disease (AD) and other neurodegenerative disorder
Externí odkaz:
https://doaj.org/article/39019b2fd75649b2973ff4c54bbd636b
Autor:
Rachel L. Doser, Dailu Chen, Judith A. Tello, David R. Andrew, Linda L. Restifo, William E. Conner, Mariah E. Moe, Jaswinder K. Ghuman
Publikováno v:
Journal of Neurogenetics. 35:1-22
Mutations in hundreds of genes cause neurodevelopmental disorders with abnormal motor behavior alongside cognitive deficits. Boys with fragile X syndrome (FXS), a leading monogenic cause of intelle...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::02ef043528b7b0cd3383b6cf5b24af5a
https://doi.org/10.1080/01677063.2020.1833005
https://doi.org/10.1080/01677063.2020.1833005
Autor:
David R, Andrew, Mariah E, Moe, Dailu, Chen, Judith A, Tello, Rachel L, Doser, William E, Conner, Jaswinder K, Ghuman, Linda L, Restifo
Publikováno v:
Journal of neurogenetics. 35(1)
Mutations in hundreds of genes cause neurodevelopmental disorders with abnormal motor behavior alongside cognitive deficits. Boys with fragile X syndrome (FXS), a leading monogenic cause of intellectual disability, often display repetitive behaviors,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::23c04d20cd3e52b93e987bed8997c051
https://pubmed.ncbi.nlm.nih.gov/33164597
https://pubmed.ncbi.nlm.nih.gov/33164597
Autor:
Ritin Sharma, Jacob M. Carlson, Vinodh Narayanan, Patrick Pirrotte, Kristin Leskoke, Judith A. Tello, Seema Plaisier, Melissa N. Martinez, Matthew J. Huentelman, Liberty François-Moutal, Francesca Vitali, Keri Ramsey, Ben Stansfield, Sampath Rangasamy, May Khanna, Patrick Pirotte, Llorida Llaci, Roberta Diaz Brinton, Jared M. Churko, Krystine Garcia-Mansfield
Publikováno v:
SSRN Electronic Journal.
Pontocerebellar Hypoplasia 1B (PCH1B) patients exhibit profound underdevelopment of the neocerebellum and its adjacent structures, leading to severe developmental delays as well as poor survival. Here, we report a new case of PCH1B with a known mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3df5c1f1bb5b469ed99b8af8765e8c43
https://doi.org/10.2139/ssrn.3744495
https://doi.org/10.2139/ssrn.3744495
Autor:
Stephen J. Moss, Menelas N. Pangalos, Andrés Couve, Karina J. Vargas, Judith A. Tello, Miho Terunuma
Publikováno v:
JOURNAL OF BIOLOGICAL CHEMISTRY
Artículos CONICYT
CONICYT Chile
instacron:CONICYT
Artículos CONICYT
CONICYT Chile
instacron:CONICYT
The efficacy of synaptic transmission depends on the availability of ionotropic and metabotropic neurotransmitter receptors at the plasma membrane, but the contribution of the endocytic and recycling pathways in the regulation of γ-aminobutyric acid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f65335c6f8dc7ab6989124141b53d3be
https://doi.org/10.1074/jbc.m802419200
https://doi.org/10.1074/jbc.m802419200
Autor:
Steffen Härtel, Karina J. Vargas, Stefan Kindler, Omar A. Ramírez, Rene L. Vidal, Andrés Couve, Judith A. Tello
Publikováno v:
JOURNAL OF BIOLOGICAL CHEMISTRY
Artículos CONICYT
CONICYT Chile
instacron:CONICYT
Artículos CONICYT
CONICYT Chile
instacron:CONICYT
Understanding the mechanisms that control synaptic efficacy through the availability of neurotransmitter receptors depends on uncovering their specific intracellular trafficking routes. γ-Aminobutyric acid type B (GABAB) receptors (GABABRs) are obli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14a667cb6fa27d77b2c752d66b5bbe13
Autor:
Patricio Olguín, Valeria Albornoz, Carlos Oliva, Judith A. Tello, Carolina Mendoza-Topaz, Jimena Sierralta
Publikováno v:
Gene expression patterns : GEP. 8(6)
The products of the Drosophila discs-large (dlg) gene are members of the MAGUK family of proteins, a group of proteins involved in localization, transport and recycling of receptors and channels in cell junctions, including the synapse. In vertebrate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be506ddc3e33765ccca4b98660e61050
https://pubmed.ncbi.nlm.nih.gov/18501681
https://pubmed.ncbi.nlm.nih.gov/18501681