Results 61 to 70 of about 7,542 (179)

Case report: Novel NUS1 variant in a Chinese patient with tremors and intellectual disability

Frontiers in Genetics
Introduction:Nuclear undecaprenyl pyrophosphate synthase 1 (NUS1) gene variants are associated with a range of phenotypes, including epilepsy, intellectual disability, cerebellar ataxia, Parkinson’s disease, dystonia, and congenital disorders of ...
Ruolin Li, Jiayi Yang, Jinfeng Ma, Aimei Zhang, Hongfang Li   +4 more
doaj   +1 more source

Emerging New Roles of GM130, a cis-Golgi Matrix Protein, in Higher Order Cell Functions

Journal of Pharmacological Sciences, 2010
GM130 is a peripheral membrane protein strongly attached to the Golgi membrane and is isolated from the detergent and salt resistant Golgi matrix. GM130 is rich in coiled-coil structures and predicted to take a rod-like shape. Together with p115, giantin,
Nobuhiro Nakamura
doaj   +1 more source

Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy

Molecular Genetics and Metabolism Reports, 2020
The mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) is caused by phosphomannose isomerase deficiency. Clinical features include hyperinsulinaemic hypoglycaemia, protein losing enteropathy, hepatomegaly and hepatic fibrosis ...
Kinza Noman, Christian J. Hendriksz, Graham Radcliffe, Federico Roncaroli, Sulleman Moreea, Afifah Hussain, Karolina M. Stepien   +6 more
doaj   +1 more source

hERG1 channels and potential therapeutics for long QT syndrome

The Journal of Physiology, EarlyView.
Abstract figure legend Prolonged QT results from hERG1 channel dysfunction. (A) Physiological anterograde trafficking of hERG1 channels to the plasma membrane, leading to a normal electrocardiogram. (B) Prolonged QT results from the presence of fewer hERG1 channels on the plasma membrane due to decreased anterograde trafficking or reduced function due ...
Elizabeth H. Schneider, Kelly A. Aromolaran, Michael C. Sanguinetti, Ademuyiwa S. Aromolaran   +3 more
wiley   +1 more source

Editorial: Inherited Protein Glycosylation Defects in Humans

Frontiers in Genetics, 2022
Aleksandra Jezela-Stanek, Karolina M. Stepien, Anna Tylki-Szymanska   +2 more
doaj   +1 more source

Roles for Golgi Glycans in Oogenesis and Spermatogenesis

Frontiers in Cell and Developmental Biology, 2019
Glycosylation of proteins by N- and O-glycans or glycosaminoglycans (GAGs) mostly begins in the endoplasmic reticulum and is further orchestrated in the Golgi compartment via the action of >100 glycosyltransferases that reside in this complex ...
Ayodele Akintayo, Pamela Stanley
doaj   +1 more source

Regression, Ataxia, and Nystagmus in a Toddler: Unraveling a Rare Neurodegenerative Disorder

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Infantile neuroaxonal dystrophy (INAD) should be considered in any toddler presenting with psychomotor regression and cerebellar atrophy, even when basal ganglia iron deposition is absent on initial MRI. Molecular genetic testing of PLA2G6 is essential for definitive diagnosis, enabling accurate genetic counseling and timely multidisciplinary ...
K. Venkataramana Reddy, Agasthya Daggu, Sumanth Reddy Mudiyala, Siddartha Reddy Gangapuram, M. Geethika, Lakshya Nehal Samineni   +5 more
wiley   +1 more source

Lymphatic Edema in Congenital Disorders of Glycosylation [PDF]

, 2011
Congenital disorders of glycosylation (CDG) are a group of metabolic disorders caused by deficient protein glycosylation. PMM2-CDG, the most common CDG, is caused by phosphomannomutase (PMM) deficiency. Clinical symptoms often include neurological involvement in addition to dysmorphic features, failure to thrive, cardiac failure, renal, and endocrine ...
Ruud Hj, Verstegen, Miranda, Theodore, Hans, van de Klerk, Eva, Morava   +3 more
openaire   +2 more sources

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, Volume 11, Issue 4, Page 1184-1199, August 2026.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature

JIMD Reports, 2020
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 symptoms.
Tawhida Y. Abdel Ghaffar, Bobby G. Ng, Solaf M. Elsayed, Suzan El Naghi, Sarah Helmy, Nermine Mohammed, Ahmed El Hennawy, Hudson H. Freeze   +7 more
doaj   +1 more source