Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

Autor: Andreas Gerondopoulos, Sara A. Wirth, Ercan Demir, Tawfeg Ben-Omran, Maha S. Zaki, Joseph G. Gleeson, Susanne Roosing, Isaac Marin-Valencia, Francis A. Barr, Mahmoud Y. Issa, Mariam Almureikhi, Anne Gregor, Bart Appelhof, Damir Musaev, Valentina Stanley, Alicia Guemez-Gamboa, Frank Baas, Basak Rosti

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, 101(3), 441-450
American Journal of Human Genetics, 101, 3, pp. 441-450
American Journal of Human Genetics, 101, 441-450
American journal of human genetics, vol 101, iss 3

Pontocerebellar hypoplasia (PCH) represents a group of recessive developmental disorders characterized by impaired growth of the pons and cerebellum, which frequently follows a degenerative course. Currently, there are 10 partially overlapping clinic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6337d99f2d905d75d9c6e96f98893c11
https://doi.org/10.1016/j.ajhg.2017.07.015

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Autor: Keith K. Vaux, Mahmut Şamil Sağıroğlu, Laila Bastaki, Seth J. Field, Pascale de Lonlay, Sawsan Abdel-Hadi, Lihadh Al-Gazali, Hülya Kayserili, Ali Dursun, Jeffrey D. Esko, Eric Scott, Xin Wang, Faezeh Mojahedi, Ashleigh E. Schaffer, R. Köksal Özgül, Iman G. Mahmoud, Isabelle Desguerre, Matthew D. Buschman, Laila Selim, Samia A. Temtamy, Jean-Laurent Casanova, Murat Gunel, Abdelrahim Abdrabou Sadek, Philip L.S.M. Gordts, Brett Copeland, Mona Aglan, Amira Masri, Maha S. Zaki, Joseph G. Gleeson, Matloob Azam, Naiara Akizu, Vincent Cantagrel, Antoinette Gelot, Basak Rosti, Jennifer L. Silhavy, Esra Dikoglu, Ulrich Müller, Amera El Badawy, Gennaro Napolitano, Stacey Gabriel, Rasim Ozgur Rosti, Jana Schroth, Samira Ismail, Ghada M H Abdel-Salam

Publikováno v: Nature genetics, vol 47, iss 5
Nature genetics

Pediatric-onset ataxias often present clinically as developmental delay and intellectual disability, with prominent cerebellar atrophy as a key neuroradiographic finding. Here we describe a new clinically distinguishable recessive syndrome in 12 fami

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c7fb536aeb87a30e2cdd2ae132af0ef
https://doi.org/10.1038/ng.3256

Biallelic mutations in the 3 ' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Autor: Jens Lykke-Andersen, Marie-Cécile Nassogne, Nicola Foulds, Susan Blaser, Anne Gregor, Rea M. Lardelli, Stefania Maria Bova, Ashleigh E. Schaffer, Linda Warwick, Masaaki Shiina, Eric Scott, Hülya Kayserili, Murat Gunel, Linda De Meirleir, Ahmet Okay Caglayan, Luigina Spaccini, Kazuhiro Ogata, Ari Widjaja, Naiara Akizu, Naomichi Matsumoto, David Chitayat, Henrik Thybo Christesen, Stephanie Grainger, David K. Manchester, Laura Dean Heckman, Gene W. Yeo, Sebastian Markmiller, Kazuhiro Muramatsu, Rohit Mande, Maha S. Zaki, Zinayida Schlachetzki, Umut Altunoglu, Kimberly A. Aldinger, Maria Kibaek, Joseph G. Gleeson, Justin H Davies, Mary Louise Freckmann, Eric J. Bennett, Jennifer L. Silhavy, Timothy Shaw, Esra Dikoglu, David Traver, Hüseyin Per, Eric L. Van Nostrand, Neil C. Chi, Stacey Gabriel, Enza Maria Valente, Hirotomo Saitsu, Veerle Rc Eggens, Shashank Sathe, Rasim Ozgur Rosti, Christina Fagerberg, Kaya Bilguvar, Alicia Guemez-Gamboa, Frank Baas, Basak Rosti, Damir Musaev, Isaac Marin-Valencia, William B. Dobyns

Publikováno v: Nature genetics
Nature Genetics, 49(3), 457-464
Nature Genetics, Vol. 49, no.3, p. 457-464 (2017)
Nature genetics, 49(3), 457-464. Nature Publishing Group
Lardelli, R M, Schaffer, A E, Eggens, V R C, Zaki, M S, Grainger, S, Sathe, S, Van Nostrand, E L, Schlachetzki, Z, Rosti, B, Akizu, N, Scott, E, Silhavy, J L, Heckman, L D, Rosti, R O, Dikoglu, E, Gregor, A, Guemez-Gamboa, A, Musaev, D, Mande, R, Widjaja, A, Shaw, T L, Markmiller, S, Marin-Valencia, I, Davies, J H, De Meirleir, L, Kayserili, H, Altunoglu, U, Freckmann, M L, Warwick, L, Chitayat, D, Blaser, S, Ça Layan, A O, Bilguvar, K, Per, H, Fagerberg, C, Christesen, H B T, Kibæk, M, Aldinger, K A, Manchester, D, Matsumoto, N, Muramatsu, K, Saitsu, H, Shiina, M, Ogata, K, Foulds, N, Dobyns, W B, Chi, N C, Traver, D, Spaccini, L, Bova, S M, Gabriel, S B, Gunel, M, Valente, E M, Nassogne, M C, Bennett, E J, Yeo, G W, Baas, F, Lykke-Andersen, J & Gleeson, J G 2017, ' Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing ', Nature Genetics, vol. 49, no. 3, pp. 457-464 . https://doi.org/10.1038/ng.3762
Nature genetics, vol 49, iss 3

Deadenylases are best known for degrading the poly(A) tail during mRNA decay. The deadenylase family has expanded throughout evolution and, in mammals, consists of 12 Mg2+-dependent 3’ end ribonucleases with mostly unknown substrate specificity1. P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91e93af0a10db11f22ffaa9743a63cb4
https://hdl.handle.net/1887/114885

Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome

Autor: Rasim Ozgur Rosti, Emma Wakeling, Basak Rosti, Jennifer L. Silhavy, Erik de Vrieze, Erwin van Wijk, Joseph G. Gleeson, Susanne Roosing

Publikováno v: Human Genetics, 135, 919-21
Human Genetics, 135, 8, pp. 919-21

Contains fulltext : 167861.pdf (Publisher’s version ) (Closed access) Joubert Syndrome (JS) is an inherited ciliopathy associated with mutations in genes essential in primary cilium function. Whole exome sequencing in a multiplex consanguineous fam

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2ff74d2038089a584805f5ef11dcec9
http://hdl.handle.net/2066/167861