Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Autor: Jennifer Friedman, Desiree E. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing-Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek E. I. Omar, Tawfeg Ben-Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)

Valyl-tRNA synthetase (VARS) charges valyl-tRNA with the amino acid valine, required for translation. Here, the authors describe a progressive epileptic encephalopathy in individuals from five families carrying biallelic mutations in the VARS gene th

Externí odkaz: https://doaj.org/article/2b11aa05a4174343ac7596764303089f

The critical role of membralin in postnatal motor neuron survival and disease

Autor: Bo Yang, Mingliang Qu, Rengang Wang, Jon E Chatterton, Xiao-Bo Liu, Bing Zhu, Sonoko Narisawa, Jose Luis Millan, Nobuki Nakanishi, Kathryn Swoboda, Stuart A Lipton, Dongxian Zhang

Publikováno v: eLife, Vol 4 (2015)

Hitherto, membralin has been a protein of unknown function. Here, we show that membralin mutant mice manifest a severe and early-onset motor neuron disease in an autosomal recessive manner, dying by postnatal day 5–6. Selective death of lower motor

Externí odkaz: https://doaj.org/article/6372ba534f6042f3a37c0d0883d048b4

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Autor: Kiely N. James, Shareef Nahas, Valentina Stanley, Gajja S. Salomons, Mahmoud Y. Issa, Tarek Omar, Geneviève Bernard, Kristen Wigby, Maha S. Zaki, Wing-Sze Lo, Luan T. Tran, David Dimmock, Damir Musaev, Marisa I. Mendes, Amber Hildreth, Andrea Accogli, Jennifer Friedman, Joseph G. Gleeson, Stephen F. Kingsmore, Zhiwen Xu, Desirée E.C. Smith, Alanna E. Koehler, John R. Crawford, Kether Guerrero, Shimul Chowdhury, Liting Zhai, Tawfeg Ben-Omran, Meredith S. Wright, Rengang Wang

Publikováno v: Nature communications, vol 10, iss 1
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Friedman, J, Smith, D E, Issa, M Y, Stanley, V, Wang, R, Mendes, M I, Wright, M S, Wigby, K, Hildreth, A, Crawford, J R, Koehler, A E, Chowdhury, S, Nahas, S, Zhai, L, Xu, Z, Lo, W-S, James, K N, Musaev, D, Accogli, A, Guerrero, K, Tran, L T, Omar, T E I, Ben-Omran, T, Dimmock, D, Kingsmore, S F, Salomons, G S, Zaki, M S, Bernard, G & Gleeson, J G 2019, ' Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy ', Nature Communications, vol. 10, no. 1, 707 . https://doi.org/10.1038/s41467-018-07067-3
Nature Communications
Nature Communications, 10(1):707. Nature Publishing Group

Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72c2f11a959c77b38f909d76c878ca20
https://escholarship.org/uc/item/7527h1v1

Biallelic loss of human CTNNA2, encoding alpha N-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Autor: Bülent Kara, Ariana Kariminejad, Elif Fenercioglu, Faruk Incecik, William B. Dobyns, Sumita Danda, Jamel Chelly, Rengang Wang, Hind Y. Al-Abdulwahed, Lobna Mansour, Nouriya Al-Sanaa, Hülya Kayserili, Martin W. Breuss, Jennifer L. Silhavy, Ahmet Okay Caglayan, Valentina Stanley, Kaya Bilguvar, Bruce A. Barshop, Tawfeg Ben-Omran, Gia Melikishvili, Rasim Ozgur Rosti, Rami Abou Jamra, Na Cai, Murat Gunel, Damir Musaev, Faezeh Mojahedi, Ashleigh E. Schaffer, Hisham Megahed, Eissa Faqeih, Rahul Nachnani, Cahide Yilmaz, Hande Kaymakçalan, Seham Elsharif, Biayna Sukhudyan, Brett Copeland, Joseph G. Gleeson, Ian Miller, Eric C. Scott, Maha S. Zaki, Majdi Kara, Aneesha Kalur, Kiely N. James, Seung Tae Baek, Yasemin Alanay

Publikováno v: Nature genetics

WOS: 000440423400008 PubMed ID: 30013181 Neuronal migration defects, including pachygyria, are among the most severe developmental brain defects in humans. Here, we identify biallelic truncating mutations in CTNNA2, encoding alpha N-catenin, in patie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b5d5d9ed61d420602f3b24e1d07a882
https://hdl.handle.net/20.500.12605/9341

Preclinical Development of a Bcma Targeting Antibody-Drug Conjugate with Novel Payload for Multiple Myeloma Therapy

Autor: Yingqing Sun, Hui Li, Tong Zhu, Lingna Li, Rengang Wang, Alisher Khasanov, Robert Knight, Ernest Kovacs, Megan Lau, Zheng Yan, Dalun Deng, Xiaoqing Li, Gunnar F. Kaufmann, Andrew Hau, Hong Zhang, Henry Ji

Publikováno v: Blood. 134:5623-5623

BCMA (B-cell maturation antigen) is an integral membrane protein that belongs to the TNF receptor family with expression restricted to B cell lineage cells. The RNA is near universally detected in multiple myeloma (MM) cells and the protein is expres

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::31626f088fae2e492d1f9685f976a8d7
https://doi.org/10.1182/blood-2019-132080