Upregulation of Sortilin, a Lysosomal Sorting Receptor, Corresponds with Reduced Bioavailability of Latent TGFβ in Mucolipidosis II Cells

Autor: Jarrod W. Barnes, Megan Aarnio-Peterson, Joy Norris, Mark Haskins, Heather Flanagan-Steet, Richard Steet

Publikováno v: Biomolecules, Vol 10, Iss 5, p 670 (2020)

Mucolipidosis II (ML-II) is a lysosomal disease caused by defects in the carbohydrate-dependent sorting of soluble hydrolases to lysosomes. Altered growth factor signaling has been identified as a contributor to the phenotypes associated with ML-II a

Externí odkaz: https://doaj.org/article/ad93abfdaa7c4131a517eaeffd84ef8e

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Autor: Charles E. Schwartz, Emil Alexov, Jyoti S. Choudhary, Sujata Srikanth, Joy Norris, Keri Ramsey, Lu Yu, David J. Adams, Yu-Ri Lee, Karen W. Gripp, Ed Spence, Cheol-Hee Kim, Aida Telegrafi, Roger E. Stevenson, Chelsea Roadhouse, Trevor Moreland, Tae Ik Choi, Soo Jeong Kwon, Hee Moon Park, Erica E. Davis, Ingrid M. Wentzensen, Won Do Heo, Kim Armfield-Uhas, Cindy Skinner, Nicholas Katsanis, Yunhui Peng, Kamal Khan, Mercedes Pardo, Kirsty McWalter, Shahid Mahmood Baig, Marie R. Mooney, Nicola A. Thompson, Michael J. Lyons, Chumei Li, Daseuli Yu, Kirk Aleck

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-17 (2020)
Nature Communications

Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original Armfield XLID syndrome family localized in Xq28 an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80297b0ddd856c866eac969b196320b3
https://doaj.org/article/63052a3b677a4732a00742387ae8a8ff

A novel partial duplication in OPHN1, associated with vermis cerebellar hypoplasia, seizures and developmental delay

Autor: Laxmi Kirola, Joy Norris, Lynda Holloway, Tracy Brandt, Kate Kaercher, Catherine A. Ziats, Kirsty McWalter, Marilyn C. Jones, Cindy Skinner, Charles Schwartz

Publikováno v: Gene Reports. 27:101590

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::537272a9c675fbd6b0e0836f6ae56f04
https://doi.org/10.1016/j.genrep.2022.101590

Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects

Autor: Jane H. Dean, Tracy Reynolds, Yunhui Peng, Roger S Stevenson, Caleb Bupp, Paul Mester, Joy Norris, Charles E. Schwartz, Michael J. Friez, Renee Bend, Emil Alexov, Catherine J Spellicy

Publikováno v: European journal of human genetics : EJHG. 26(3)

Neural tube defects (NTDs) remain one of the most serious birth defects, and although genes in several pathways have been implicated as risk factors for neural tube defects via knockout mouse models, very few molecular causes in humans have been iden

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::681a6eb31233d77c8d6058fab7c7d5bc
https://pubmed.ncbi.nlm.nih.gov/29358613

Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase

Autor: Charles E. Schwartz, Yunhui Peng, Emil Alexov, Joy Norris

Publikováno v: International Journal of Molecular Sciences, Vol 17, Iss 1, p 77 (2016)
International Journal of Molecular Sciences
International Journal of Molecular Sciences; Volume 17; Issue 1; Pages: 77

Missense mutations in spermine synthase (SpmSyn) protein have been shown to cause the Snyder-Robinson syndrome (SRS). Depending on the location within the structure of SpmSyn and type of amino acid substitution, different mechanisms resulting in SRS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fccbaf23466cd4d3db5ad38bdeb700c1
http://www.mdpi.com/1422-0067/17/1/77