Codon modification of Tuba1a alters mRNA levels and causes a severe neurodevelopmental phenotype in mice

Autor: Ines Leca, Alexander William Phillips, Lyubov Ushakova, Thomas David Cushion, David Anthony Keays

Publikováno v: Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)

Abstract The tubulinopathies are an umbrella of rare diseases that result from mutations in tubulin genes and are frequently characterised by severe brain malformations. The characteristics of a given disease reflect the expression pattern of the tra

Externí odkaz: https://doaj.org/article/f30ef63a6a784c2c867a80ab0498f92b

A proteomic survey of microtubule-associated proteins in a R402H TUBA1A mutant mouse.

Autor: Ines Leca, Alexander William Phillips, Iris Hofer, Lukas Landler, Lyubov Ushakova, Thomas David Cushion, Gerhard Dürnberger, Karel Stejskal, Karl Mechtler, David Anthony Keays

Publikováno v: PLoS Genetics, Vol 16, Iss 11, p e1009104 (2020)

Microtubules play a critical role in multiple aspects of neurodevelopment, including the generation, migration and differentiation of neurons. A recurrent mutation (R402H) in the α-tubulin gene TUBA1A is known to cause lissencephaly with cerebellar

Externí odkaz: https://doaj.org/article/f13b614748244440922147278bdf91aa

Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder

Autor: Fabian M.P. Kaiser, Sarah Gruenbacher, Maria Roa Oyaga, Enzo Nio, Markus Jaritz, Qiong Sun, Wietske van der Zwaag, Emanuel Kreidl, Lydia M. Zopf, Virgil A.S.H. Dalm, Johan Pel, Carolin Gaiser, Rick van der Vliet, Lucas Wahl, André Rietman, Louisa Hill, Ines Leca, Gertjan Driessen, Charlie Laffeber, Alice Brooks, Peter D. Katsikis, Joyce H.G. Lebbink, Kikuë Tachibana, Mirjam van der Burg, Chris I. De Zeeuw, Aleksandra Badura, Meinrad Busslinger

Publikováno v: Journal of Experimental Medicine, 219(9). ROCKEFELLER UNIV PRESS
Journal of Experimental Medicine, 219(9). Rockefeller University Press
Journal of Experimental Medicine, 219(9):e20220498. Rockefeller University Press

The genetic causes of primary antibody deficiencies and autism spectrum disorder (ASD) are largely unknown. Here, we report a patient with hypogammaglobulinemia and ASD who carries biallelic mutations in the transcription factor PAX5. A patient-speci

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0c45534b870443c148751c0cebb9e1b
https://doi.org/10.1084/jem.20220498

A proteomic survey of microtubule-associated proteins in a R402H TUBA1A mutant mouse

Autor: Karl Mechtler, Karel Stejskal, Alexander William Phillips, Lyubov Ushakova, David A. Keays, Thomas D. Cushion, Iris Hofer, Gerhard Dürnberger, Lukas Landler, Ines Leca

Publikováno v: PLoS Genetics, Vol 16, Iss 11, p e1009104 (2020)
PLoS Genetics

Microtubules play a critical role in multiple aspects of neurodevelopment, including the generation, migration and differentiation of neurons. A recurrent mutation (R402H) in the α-tubulin gene TUBA1A is known to cause lissencephaly with cerebellar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c1739779d2951da06b390a7c1314c81
https://doi.org/10.1371/journal.pgen.1009104

Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability

Autor: David A. Keays, Eric Scott, Üner Tan, Joseph G. Gleeson, Kiely N. James, Nicholas J. Cowan, Richard D. Kolodner, Martin W. Breuss, Anjana Srivatsan, Damir Musaev, Tanja Fritz, Ines Leca, Thai B. Nguyen, Guoling Tian, Rasim Ozgur Rosti, Jennifer McEvoy-Venneri, Andi H. Hansen

PubMedID: 28013290 The integrity and dynamic properties of the microtubule cytoskeleton are indispensable for the development of the mammalian brain. Consequently, mutations in the genes that encode the structural component (the ?/ß-tubulin heterodi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9a37fd0b28372a5f333dafc0a3a8aaa
https://hdl.handle.net/20.500.12605/22397