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 …

The human obesity gene map: the 2005 update

T Rankinen, A Zuberi, YC Chagnon, SJ Weisnagel… - …, 2006 - Wiley Online Library
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 …

Premature ovarian insufficiency: new perspectives on genetic cause and phenotypic spectrum

EJ Tucker, SR Grover, A Bachelot, P Touraine… - Endocrine …, 2016 - academic.oup.com
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 …

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 …

Genetics of primary ovarian insufficiency

R Rossetti, I Ferrari, M Bonomi, L Persani - Clinical genetics, 2017 - Wiley Online Library
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 …

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 …

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 …

Mannose metabolism: more than meets the eye

V Sharma, M Ichikawa, HH Freeze - Biochemical and biophysical research …, 2014 - Elsevier
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 …

Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma

Y Chen, Y Lin, EN Vithana, L Jia, X Zuo, TY Wong… - Nature …, 2014 - nature.com
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 …

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 …