Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea[S]

Autor: Nina L. Gluchowski, Chandramohan Chitraju, Joseph A. Picoraro, Niklas Mejhert, Shirly Pinto, Winnie Xin, Daniel S. Kamin, Harland S. Winter, Wendy K. Chung, Tobias C. Walther, Robert V. Farese, Jr.

Publikováno v: Journal of Lipid Research, Vol 58, Iss 6, Pp 1230-1237 (2017)

Acyl-CoA:diacylglycerol acyltransferase (DGAT)1 and DGAT2 catalyze triglyceride (TG) biosynthesis in humans. Biallelic loss-of-function mutations in human DGAT1 result in severe congenital diarrhea and protein-losing enteropathy. Additionally, pharma

Externí odkaz: https://doaj.org/article/677ba14c9319443a9790d97cd1e3b8e7

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

Autor: Louis Viollet, Gustavo Glusman, Kelley J Murphy, Tara M Newcomb, Sandra P Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Richard L Barbano, Candida Brown, Mary E Brunkow, Harry T Chugani, Sarah R Cheyette, Abigail Collins, Suzanne D DeBrosse, David Galas, Jennifer Friedman, Lee Hood, Chad Huff, Lynn B Jorde, Mary D King, Bernie LaSalle, Richard J Leventer, Aga J Lewelt, Mylynda B Massart, Mario R Mérida, Louis J Ptáček, Jared C Roach, Robert S Rust, Francis Renault, Terry D Sanger, Marcio A Sotero de Menezes, Rachel Tennyson, Peter Uldall, Yue Zhang, Mary Zupanc, Winnie Xin, Kenneth Silver, Kathryn J Swoboda

Publikováno v: PLoS ONE, Vol 10, Iss 5, p e0127045 (2015)

Mutations in ATP1A3 cause Alternating Hemiplegia of Childhood (AHC) by disrupting function of the neuronal Na+/K+ ATPase. Published studies to date indicate 2 recurrent mutations, D801N and E815K, and a more severe phenotype in the E815K cohort. We p

Externí odkaz: https://doaj.org/article/e7147684d4fa49fb9e01318e1d1efef6

Correction: Mutations in the Gene Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families.

Autor: Milen Velinov, Natalia Dolzhanskaya, Michael Gonzalez, Eric Powell, Ioanna Konidari, William Hulme, John F. Staropoli, Winnie Xin, Guang Y. Wen, Rosemary Barone, Scott H. Coppel, Katherine Sims, W. Ted Brown, Stephan Züchner

Publikováno v: PLoS ONE, Vol 7, Iss 9 (2012)

Externí odkaz: https://doaj.org/article/7b0983ed10454178adaea877bd2d2084

Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers

Autor: Haiyan Zheng, Jennifer A. Wiseman, Winnie Xin, Rosemary Barone, Katherine B. Sims, Dirk F. Moore, Istvan Sohar, David E. Sleat, Caifeng Zhao, Peter Lobel, Meiqian Qian, Abla Tannous

Publikováno v: Journal of Proteome Research. 16:3787-3804

Clinical trials have been conducted for the neuronal ceroid lipofuscinoses (NCLs), a group of neurodegenerative lysosomal diseases that primarily affect children. Whereas clinical rating systems will evaluate long-term efficacy, biomarkers to measure

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8e0c7d53e54e6cad921c1fc590a849e
https://doi.org/10.1021/acs.jproteome.7b00460

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Autor: Jonathan D. Cooper, Roberto Giugliani, Michael Fietz, Winnie Xin, Helena Poupetova, Sara E. Mole, Emanuela Izzo, Nicola Specchio, David A. Pearce, Helena Jahnová, Angela Schulz, Nicole Miller, Derek Burke, Jessica L. Cohen-Pfeffer, Inés Noher de Halac, Moeenaldeen Al-Sayed, Zoltan Lukacs, Lenka Dvořáková

Publikováno v: Fietz, M, AlSayed, M, Burke, D, Cohen-Pfeffer, J, Cooper, J D, Dvořáková, L, Giugliani, R, Izzo, E, Jahnová, H, Lukacs, Z, Mole, S E, de Halac, I N, Pearce, D A, Poupetova, H, Schulz, A, Specchio, N, Xin, W & Miller, N 2016, ' Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis ', MOLECULAR GENETICS AND METABOLISM . https://doi.org/10.1016/j.ymgme.2016.07.011

Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of lysosomal storage disorders. NCLs include the rare autosomal recessive neurodegenerative disorder neuronal ceroid lipofuscinosis type 2 (CLN2) disease, caused by mutations in the trip

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8b5ec0f16a14953201b7d72f5f7d8ea
https://doi.org/10.1016/j.ymgme.2016.07.011