Glycosylation: mechanisms, biological functions and clinical implications
M He, X Zhou, X Wang - Signal Transduction and Targeted Therapy, 2024 - nature.com
Protein post-translational modification (PTM) is a covalent process that occurs in proteins
during or after translation through the addition or removal of one or more functional groups …
during or after translation through the addition or removal of one or more functional groups …
The human obesity gene map: the 2005 update
This paper presents the 12th update of the human obesity gene map, which incorporates
published results up to the end of October 2005. Evidence from single‐gene mutation …
published results up to the end of October 2005. Evidence from single‐gene mutation …
Premature ovarian insufficiency: new perspectives on genetic cause and phenotypic spectrum
Premature ovarian insufficiency (POI) is one form of female infertility, defined by loss of
ovarian activity before the age of 40 and characterized by amenorrhea (primary or …
ovarian activity before the age of 40 and characterized by amenorrhea (primary or …
Perspectives on glycosylation and its congenital disorders
BG Ng, HH Freeze - Trends in Genetics, 2018 - cell.com
Congenital disorders of glycosylation (CDG) are a rapidly expanding group of metabolic
disorders that result from abnormal protein or lipid glycosylation. They are often difficult to …
disorders that result from abnormal protein or lipid glycosylation. They are often difficult to …
Genetics of primary ovarian insufficiency
Primary ovarian insufficiency (POI) is characterized by a loss of ovarian function before the
age of 40 and account for one major cause of female infertility. POI relevance is continuously …
age of 40 and account for one major cause of female infertility. POI relevance is continuously …
A genetic approach to mammalian glycan function
JB Lowe, JD Marth - Annual review of biochemistry, 2003 - annualreviews.org
▪ Abstract The four essential building blocks of cells are proteins, nucleic acids, lipids, and
glycans. Also referred to as carbohydrates, glycans are composed of saccharides that are …
glycans. Also referred to as carbohydrates, glycans are composed of saccharides that are …
Genetic evidence for the role of GDP-mannose in plant ascorbic acid (vitamin C) biosynthesis
PL Conklin, SR Norris, GL Wheeler… - Proceedings of the …, 1999 - National Acad Sciences
Vitamin C (l-ascorbic acid; AsA) acts as a potent antioxidant and cellular reductant in plants
and animals. AsA has long been known to have many critical physiological roles in plants …
and animals. AsA has long been known to have many critical physiological roles in plants …
Mannose metabolism: more than meets the eye
Mannose is a simple sugar with a complex life. It is a welcome therapy for genetic and
acquired human diseases, but it kills honeybees and blinds baby mice. It could cause …
acquired human diseases, but it kills honeybees and blinds baby mice. It could cause …
Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma
We performed a genome-wide association study for primary open-angle glaucoma (POAG)
in 1,007 cases with high-pressure glaucoma (HPG) and 1,009 controls from southern China …
in 1,007 cases with high-pressure glaucoma (HPG) and 1,009 controls from southern China …
International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: diagnosis, treatment and follow up
R Altassan, R Péanne, J Jaeken… - Journal of inherited …, 2019 - Wiley Online Library
Abstract Phosphomannomutase 2 (PMM2‐CDG) is the most common congenital disorder of
N‐glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and …
N‐glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and …