Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

Autor: William L. Macken, Annie Godwin, Gabrielle Wheway, Karen Stals, Liliya Nazlamova, Sian Ellard, Ahmed Alfares, Taghrid Aloraini, Lamia AlSubaie, Majid Alfadhel, Sulaiman Alajaji, Htoo A. Wai, Jay Self, Andrew G. L. Douglas, Alexander P. Kao, Matthew Guille, Diana Baralle

Publikováno v: Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)

Abstract Background Coat protein complex 1 (COPI) is integral in the sorting and retrograde trafficking of proteins and lipids from the Golgi apparatus to the endoplasmic reticulum (ER). In recent years, coat proteins have been implicated in human di

Externí odkaz: https://doaj.org/article/80c8d687a6984db2bccd3da2c3505ebc

Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID:An emerging neurodevelopmental syndrome

Autor: Vardha Ismail, Linda G. Zachariassen, Annie Godwin, Mane Sahakian, Sian Ellard, Karen L. Stals, Emma Baple, Kate Tatton Brown, Nicola Foulds, Gabrielle Wheway, Matthew O. Parker, Signe M. Lyngby, Miriam G. Pedersen, Julie Desir, Allan Bayat, Maria Musgaard, Matthew Guille, Anders S. Kristensen, Diana Baralle

Publikováno v: Ismail, V, Zachariassen, L G, Godwin, A, Sahakian, M, Ellard, S, Stals, K L, Baple, E, Brown, K T, Foulds, N, Wheway, G, Parker, M O, Lyngby, S M, Pedersen, M G, Desir, J, Bayat, A, Musgaard, M, Guille, M, Kristensen, A S & Baralle, D 2022, ' Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID : An emerging neurodevelopmental syndrome ', American Journal of Human Genetics, vol. 109, no. 7, pp. 1217-1241 . https://doi.org/10.1016/j.ajhg.2022.05.009

GRIA1 encodes the GluA1 subunit of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors, which are ligand-gated ion channels that act as excitatory receptors for the neurotransmitter L-glutamate (Glu). AMPA receptors (AMPARs) are ho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2447239acb651f58a52c081710ba7e50
https://curis.ku.dk/portal/da/publications/identification-and-functional-evaluation-of-gria1-missense-and-truncation-variants-in-individuals-with-id(9576e283-94cc-4daf-91c3-e74d23a8b35f).html

Opposite modulation of RAC1 by mutations in TRIO is associated with distinct, domain specific neurodevelopmental disorders

Autor: Marcie A. Steeves, Marjorlaine Willems, Siddharth Banka, Yline Capri, Michael J. Parker, Stephanie Greville-Heygate, Emma Clement, David Goudie, Vincent Cantagrel, Diana Rodriguez, Marlène Rio, Matthew Guille, Htoo A Wai, Anne Debant, Ajoy Sarkar, Fleur Vansenne, Frédéric Tran Mau-Them, Peter D Turnpenny, Audrey Putoux, Christine Fagotto-Kaufmann, Karine Siquier-Pernet, Bert B.A. de Vries, Boris Keren, Maxime Bonnet, Lydie Burglen, Sébastien Moutton, Marion Gérard, Susanne Schmidt, Diana Baralle, Sónia Barbosa, Benjamin Cogné, Damien Laouteouet, Amélie Piton, Helen Cox, Rebecca Mawby, Marie Vincent, Annie Godwin, Andrey V. Kajava, Sarju G. Mehta, Alexander J. M. Dingemans, Jozef Hertecant, Jayne Y. Hehir-Kwa, Gaetan Lesca

Publikováno v: C4RCD Research Group 2020, ' Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2020.01.018
American Journal of Human Genetics, 106(3), 338-355. CELL PRESS
American Journal of Human Genetics, 106, 338-355
Barbosa, S, Greville-Heygate, S, Bonnet, M, Godwin, A L, Fagotto-Kaufmann, C, Kajava, A V, Laouteouet, D, Mawby, R, Wai, H A, Dingemans, A, De Vries, B, Willems, M, Capri, Y, Mehta, S G, Cox, H, Goudie, D, Vansenne, F, Turnpenny, P, Vincent, M, Lesca, G, Hertecant, J, Rodriguez, D, Marion, G, Putoux, A, Ramsey, K, Cantagrel, V, Banka, S, Sarkar, A, Steeves, M, Parker, M, Clement, E, Moutton, S, Tran-Mau-Them, F, Piton, A, Guille, M, Debant, A, Schmidt, S & Baralle, D 2020, ' Opposite modulation of RAC1 by mutations in TRIO is associated with distinct, domain specific neurodevelopmental disorders ', American Journal of Human Genetics, vol. 106, no. 3, pp. 338-355 . https://doi.org/10.1016/j.ajhg.2020.01.018
American Journal of Human Genetics, 106, 3, pp. 338-355
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106 (3), pp.338-355. ⟨10.1016/j.ajhg.2020.01.018⟩

The Rho-guanine nucleotide exchange factor (RhoGEF) TRIO acts as a key regulator of neuronal migration, axonal outgrowth, axon guidance, and synaptogenesis by activating the GTPase RAC1 and modulating actin cytoskeleton remodeling. Pathogenic variant

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e6feb0d914090bef0d0a94f376bcc6f
https://eprints.soton.ac.uk/438435/

A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency

Autor: R. Michael Linden, Els Henckaerts, Rebecca J. Holley, Antonette Bennett, Patrick Aldrin-Kirk, Robin R. Ali, Amir Saam Youshani, Carla Martins, Alexey V. Pshezhetsky, Mavis Agbandje-McKenna, Brian W. Bigger, André S L M Antunes, Thierry Levade, Julie Tordo, Helen Parker, Paul Rouse, Zelpha D'Souza, Larbi Dridi, Kevin B. Stacey, Ahad A. Rahim, Annie Godwin, Nathalie Clement, Claire O'Leary, Daniel M. Davis, Ai Yin Liao, Simon N. Waddington, Nuria Palomar, Mark Basche, Hélène F.E. Gleitz, Adam Dyer, Tomas Björklund

Publikováno v: Brain
Tordo, J, O'Leary, C, Antunes, A S L M, Palomar, N, Aldrin-Kirk, P, Basche, M, Bennett, A, D'Souza, Z, Gleitz, H, Godwin, A, Holley, R J, Parker, H, Liao, A Y, Rouse, P, Youshani, A S, Dridi, L, Martins, C, Levade, T, Stacey, K B, Davis, D M, Dyer, A, Clément, N, Björklund, T, Ali, R R, Agbandje-McKenna, M, Rahim, A A, Pshezhetsky, A, Waddington, S N, Linden, R M, Bigger, B W & Henckaerts, E 2018, ' A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency ', Brain, vol. 141, no. 7, pp. 2014-2031 . https://doi.org/10.1093/brain/awy126
Tordo, J, O'Leary, C, Antunes, A S L M, Palomar, N, Aldrin-Kirk, P, Basche, M, Bennett, A, D'Souza, Z, Gleitz, H, Godwin, A, Holley, R, Parker, H, Liao, A, Rouse, P, Youshani, A, Dridi, L, Martins, C, Levade, T, Stacey, K, Davis, D M, Dyer, A, Clement, N, Bjorklund, T, Ali, R R, Agbandje-McKenna, M, Rahim, A, Pshezhetsky, A V, Waddington, S N, Linden, R M, Bigger, B & Henckaerts, E 2018, ' A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency ', Brain, vol. 141, no. 7, pp. 2014-2031 . https://doi.org/10.1093/brain/awy126

Tordo et al. present a novel AAV gene therapy vector, AAV-TT, which exceeds the current benchmark neurotropic serotypes AAV9 and AAVrh10 and enables unprecedented correction of a lysosomal transmembrane enzyme deficiency. AAV-TT based gene therapies

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b17a7608215d5ccd1f1e0191c5e9330