Zobrazeno 1 - 10
of 481
pro vyhledávání: '"H. Freeze"'
Autor:
Zhi‐Jie Xia, Bobby G. Ng, Elizabeth Jennions, Maria Blomqvist, Anneli Sandqvist Wiklund, Carola Hedberg‐Oldfors, Carlos Rodriguez Gonzalez, Hudson H. Freeze, Sofia Ygberg, Erik A. Eklund
Publikováno v:
JIMD Reports, Vol 64, Iss 1, Pp 79-89 (2023)
Abstract Here, we present the first two Swedish cases of Conserved Oligomeric Golgi complex subunit 6‐congenital disorders of glycosylation (COG6‐CDG). Their clinical symptoms include intellectual disability, Attention Deficit/Hyperactivity Disor
Externí odkaz:
https://doaj.org/article/108ee8bfa711493c8995bc122fceb1eb
Autor:
Yoichiro Harada, Yu Mizote, Takehiro Suzuki, Akiyoshi Hirayama, Satsuki Ikeda, Mikako Nishida, Toru Hiratsuka, Ayaka Ueda, Yusuke Imagawa, Kento Maeda, Yuki Ohkawa, Junko Murai, Hudson H Freeze, Eiji Miyoshi, Shigeki Higashiyama, Heiichiro Udono, Naoshi Dohmae, Hideaki Tahara, Naoyuki Taniguchi
Publikováno v:
eLife, Vol 12 (2023)
Mannose has anticancer activity that inhibits cell proliferation and enhances the efficacy of chemotherapy. How mannose exerts its anticancer activity, however, remains poorly understood. Here, using genetically engineered human cancer cells that per
Externí odkaz:
https://doaj.org/article/3060d83b96b647d589cb47315ff0fe2d
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100006- (2023)
Externí odkaz:
https://doaj.org/article/f999a585a00e41da8236228311ae704d
Autor:
Zhi-Jie Xia, Sonal Mahajan, Earnest James Paul Daniel, Bobby G. Ng, Mayank Saraswat, Alexandre Rosa Campos, Rabi Murad, Miao He, Hudson H. Freeze
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Saul-Wilson syndrome is a rare skeletal dysplasia caused by a heterozygous mutation in COG4 (p.G516R). Our previous study showed that this mutation affected glycosylation of proteoglycans and disturbed chondrocyte elongation and intercalation in zebr
Externí odkaz:
https://doaj.org/article/3b864cc37ccc4109956e83f29288fb72
Autor:
Peter Witters, Andrew C. Edmondson, Christina Lam, Christin Johnsen, Marc C. Patterson, Kimiyo M. Raymond, Miao He, Hudson H. Freeze, Eva Morava
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-5 (2021)
Abstract A recent report on long-term dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG) claimed improved glycosylation and called for double-blind randomized study of the dietary supplement in PMM2-CDG patients. A lack of
Externí odkaz:
https://doaj.org/article/41e06f0bf6614be19ee60576819b8b92
Autor:
Tawhida Y. Abdel Ghaffar, Bobby G. Ng, Solaf M. Elsayed, Suzan El Naghi, Sarah Helmy, Nermine Mohammed, Ahmed El Hennawy, Hudson H. Freeze
Publikováno v:
JIMD Reports, Vol 56, Iss 1, Pp 20-26 (2020)
Abstract MPI‐CDG is a rare congenital disorder of glycosylation (CDG) which presents with hepato‐gastrointestinal symptoms and hypoglycemia. We report on hepatic evaluation of two pediatric patients who presented to us with gastrointestinal sympt
Externí odkaz:
https://doaj.org/article/b8bb74acd9694e35a7e695786db69adf
Autor:
Ali Al-Otaibi, Alaa AlAyed, Asma Al Madhi, Leena Saeed, Bobby G. Ng, Hudson H. Freeze, Mohammed Almannai
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100835- (2022)
Developmental and epileptic encephalopathy type 50 is an autosomal recessive disorder caused by pathogenic variants in CAD. This gene encodes a multifunctional enzyme involved in the initial steps of de novo pyrimidine synthesis. Uridine treatment ha
Externí odkaz:
https://doaj.org/article/81a39f65abc64bd79364b041fee9b177
Autor:
Elsenoor J. Klaver, Lynn Dukes-Rimsky, Brijesh Kumar, Zhi-Jie Xia, Tammie Dang, Mark A. Lehrman, Peggi Angel, Richard R. Drake, Hudson H. Freeze, Richard Steet, Heather Flanagan-Steet
Publikováno v:
JCI Insight, Vol 6, Iss 24 (2021)
The genetic bases for the congenital disorders of glycosylation (CDG) continue to expand, but how glycosylation defects cause patient phenotypes remains largely unknown. Here, we combined developmental phenotyping and biochemical studies in a potenti
Externí odkaz:
https://doaj.org/article/d2597283620949a4bf31541aa31b6117
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Saul–Wilson syndrome (SWS) is a rare, skeletal dysplasia with progeroid appearance and primordial dwarfism. It is caused by a heterozygous, dominant variant (p.G516R) in COG4, a subunit of the conserved oligomeric Golgi (COG) complex involved in in
Externí odkaz:
https://doaj.org/article/3dbcf0cc5b034172a8a424e5a97cb95c
Autor:
Carlos Alberto González-Domínguez, Moisés O. Fiesco-Roa, Samuel Gómez-Carmona, Anke Paula Ingrid Kleinert-Altamirano, Miao He, Earnest James Paul Daniel, Kimiyo M. Raymond, Melania Abreu-González, Sandra Manrique-Hernández, Ana González-Jaimes, Roberta Salinas-Marín, Carolina Molina-Garay, Karol Carrillo-Sánchez, Luis Leonardo Flores-Lagunes, Marco Jiménez-Olivares, Anallely Muñoz-Rivas, Mario E. Cruz-Muñoz, Matilde Ruíz-García, Hudson H. Freeze, Héctor M. Mora-Montes, Carmen Alaez-Verson, Iván Martínez-Duncker
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Externí odkaz:
https://doaj.org/article/16f9a7c36b8c4e668090bb6fa6040a84