Zobrazeno 1 - 10
of 98
pro vyhledávání: '"Bobby G, Ng"'
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:
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:
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
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:
Pietro Vajro, Katarzyna Zielinska, Bobby G. Ng, Marco Maccarana, Per Bengtson, Marco Poeta, Claudia Mandato, Elisa D’Acunto, Hudson H. Freeze, Erik A. Eklund
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)
Abstract Background TMEM199 deficiency was recently shown in four patients to cause liver disease with steatosis, elevated serum transaminases, cholesterol and alkaline phosphatase and abnormal protein glycosylation. There is no information on the lo
Externí odkaz:
https://doaj.org/article/ab5cb8607c3e4443af5bc8049231a9fe
Autor:
Stefan Pfeffer, Johanna Dudek, Miroslava Schaffer, Bobby G. Ng, Sahradha Albert, Jürgen M. Plitzko, Wolfgang Baumeister, Richard Zimmermann, Hudson H. Freeze, Benjamin D. Engel, Friedrich Förster
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-9 (2017)
The translocon-associated protein complex (TRAP) is a crucial component of the endoplasmic reticulum protein translocon. Here the authors study native translocon structures from human disease patients and algae cells to determine the molecular organi
Externí odkaz:
https://doaj.org/article/023a7bda41494344bc4c30d1b798446d
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. 64:79-89
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e4aa9152bf3fb85c5593022f7d3a46c
https://doi.org/10.1002/jmd2.12338
https://doi.org/10.1002/jmd2.12338
Autor:
Sara Nagy, Tracy Lau, Shahryar Alavi, Ehsan Ghayoor Karimiani, Jalal Vallian, Bobby G. Ng, Samaneh Noroozi Asl, Javad Akhondian, Amir Bahreini, Omid Yaghini, Prech Uapinyoying, Carsten Bonnemann, Hudson H. Freeze, Vajira H. W. Dissanayake, Nirmala D. Sirisena, Miriam Schmidts, Henry Houlden, Andres Moreno‐De‐Luca, Reza Maroofian
Publikováno v:
Clinical Genetics. 102:530-536
Biallelic pathogenic variants in the genes encoding the dolichol-phosphate mannose synthase subunits (DPM) which produce mannosyl donors for glycosylphosphatidylinositols, N-glycan and protein O- and C-mannosylation, are rare causes of congenital dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::046d1adaf8c17c09ac4670427d17c5e5
https://doi.org/10.1111/cge.14208
https://doi.org/10.1111/cge.14208
Publikováno v:
Cell Reports, Vol 29, Iss 13, Pp 4620-4631.e4 (2019)
Summary: Patients with pathogenic mutations in NGLY1 cannot make tears and have global developmental delay and liver dysfunction. Traditionally, NGLY1 cleaves intact N-glycans from misfolded, retrotranslocated glycoproteins before proteasomal degrada
Externí odkaz:
https://doaj.org/article/72637c71ee874be583aaa2e936fd74da