Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication

Autor: Andrew Kodani, Timothy W Yu, Jeffrey R Johnson, Divya Jayaraman, Tasha L Johnson, Lihadh Al-Gazali, Lāszló Sztriha, Jennifer N Partlow, Hanjun Kim, Alexis L Krup, Alexander Dammermann, Nevan J Krogan, Christopher A Walsh, Jeremy F Reiter

Publikováno v: eLife, Vol 4 (2015)

Primary microcephaly (MCPH) associated proteins CDK5RAP2, CEP152, WDR62 and CEP63 colocalize at the centrosome. We found that they interact to promote centriole duplication and form a hierarchy in which each is required to localize another to the cen

Externí odkaz: https://doaj.org/article/b40640f1f0e84ee9a3c58b1340bbe175

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

Autor: Ellen van Beusekom, Andrea K. Petersen, Alireza Sedaghat, Amir Sherafat, Henry Houlden, Mohammad Yahya Vahidi Mehrjardi, Laila Selim, Nihal M. Al Menabawy, Stephanie Efthymiou, Ender Karaca, Mohammadreza Dehghani, Alper Gezdirici, Neda Mazaheri, Reza Azizi Malamiri, Vincenzo Salpietro, Valentina Stanley, Leslie Durham, Christopher A. Walsh, Caroline Dias, Lieke L.M. Schaeken, James R. Lupski, Reza Maroofian, Hamid Galehdari, Selina Banu, Jaya Punetha, Edward Yang, Davut Pehlivan, Zeynep Coban-Akdemir, Elena Seiradake, Jennifer E. Posey, Maryam Najafi, Gholamreza Shariati, Joseph G. Gleeson, Céline Zheng, Jamileh Rezazadeh Varaghchi, Hans van Bokhoven, Daniel L. Polla, Jennifer N. Partlow, Jennifer Keller-Ramey, Tadahiro Mitani, Abolfazl Rad, Valeria V. Orlova, Shalini N. Jhangiani

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, 105, 5, pp. 1048-1056
American Journal of Human Genetics, 105, 1048-1056

NTNG2 encodes netrin-G2, a membrane-anchored protein implicated in the molecular organization of neuronal circuitry and synaptic organization and diversification in vertebrates. In this study, through a combination of exome sequencing and autozygosit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b84f035a1329a6d86df6250a6489b3b9
https://doi.org/10.1016/j.ajhg.2019.09.025

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy

Autor: Jiang Wu, A. James Barkovich, Jiqiang Ling, Tojo Nakayama, Mary R. Andriola, R. Sean Hill, Ganeshwaran H. Mochida, Malak El-Quessny, Brenda J. Barry, Jody Weiss, Dylan J. Vaughan, Patricia Galvin-Parton, Jennifer N. Partlow

Publikováno v: Human Mutation. 38:1348-1354

Aminoacyl-transfer RNA (tRNA) synthetases ligate amino acids to specific tRNAs and are essential for protein synthesis. Although alanyl-tRNA synthetase (AARS) is a synthetase implicated in a wide range of neurological disorders from Charcot-Marie-Too

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dec8d0c4a302c1e06b5d5b29fdacc56
https://doi.org/10.1002/humu.23250

Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy

Autor: Christopher A. Walsh, Mariam Almureikhi, A. James Barkovich, Nada Alaaraj, Tawfeg Ben-Omran, Shenela Lakhani, Jennifer N. Partlow, Ryan N. Doan, Muna Al Saffar, Mahmoud F. Elsaid

Publikováno v: European Journal of Medical Genetics. 60:245-249

Arthrogryposis multiplex congenital, the occurrence of multiple joint contractures at birth, can in some cases be accompanied by insufficient myelination of peripheral nerves, muscular hypotonia, reduced tendon reflexes, and respiratory insufficiency

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5aadf62692ab45aba7827376e619f5dc
https://doi.org/10.1016/j.ejmg.2017.02.006

Expanding the clinical spectrum of biallelic ZNF335 variants

Autor: Laura Vandervore, Tim Vanderhasselt, Alexander Gheldof, Andrew B. Stergachis, Katrien Stouffs, Sara Seneca, Alice Dica, Divya Jayaraman, Olaf Bodamer, Jennifer N. Partlow, Inge Liebaers, Sandra Janssens, Anna Jansen, Haley E. Hill, Kathelijn Keymolen, Christopher A. Walsh

ZNF335 plays an essential role in neurogenesis and biallelic variants in ZNF335 have been identified as the cause of severe primary autosomal recessive microcephaly in two unrelated families. We describe herein two additional affected individuals wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::435b59f78c39c1757b01a95e8f44c98c
https://europepmc.org/articles/PMC6361164/