Results 1 to 10 of about 13,098 (176)

GCK exonic mutations induce abnormal biochemical activities and result in GCK-MODY

Frontiers in Genetics, 2023
Objective: Glucokinase-maturity-onset diabetes of the young (GCK-MODY; MODY2) is a rare genetic disorder caused by mutations in the glucokinase (GCK) gene.
Lifen Chen
exaly   +3 more sources

Localized increases in CEPT1 and ATGL elevate plasmalogen phosphatidylcholines in HDLs contributing to atheroprotective lipid profiles in hyperglycemic GCK-MODY

Redox Biology, 2021
Glucokinase-maturity onset diabetes of the young (GCK-MODY) represents a rare genetic disorder due to mutation in the glucokinase (GCK) gene. The low incidence of vascular complications in GCK-MODY makes it a natural paradigm for interrogating molecular ...
Xinhua Xiao, Huabing Zhang, Miao Yu
exaly   +3 more sources

Glucokinase activity suppresses hepatic cholesterol synthesis and triglyceride accumulation: A new model for the effects of the GKRP P466L common human variant [PDF]

Molecular Metabolism
Objectives: Glucokinase Regulatory Protein (GKRP) controls the activity of Glucokinase (GCK) to regulate liver glucose uptake and storage. Coding variants in GCKR, the gene encoding GKRP, strongly associate with fatty liver disease, hypertriglyceridemia,
Dominic Santoleri, Sarah Traynor, Ryan P. Calhoun, Matthew J. Gavin, David Merrick, Patrick Seale, Paul M. Titchenell   +6 more
doaj   +2 more sources

Case Report: New insights about clinical manifestations of patients with GCK genetic variants

Frontiers in Endocrinology
GCK-MODY is a genetic condition characterized by alterations in the GCK gene, which can include several types of inactivating genetic variants - ranging from missense and nonsense variants, and splice site variants, to small and large deletions and ...
Jorge Luiz Luescher, De Souza Ritiele Bastos   +1 more
exaly   +3 more sources

A comprehensive map of human glucokinase variant activity

Genome Biology, 2023
Background Glucokinase (GCK) regulates insulin secretion to maintain appropriate blood glucose levels. Sequence variants can alter GCK activity to cause hyperinsulinemic hypoglycemia or hyperglycemia associated with GCK-maturity-onset diabetes of the ...
Sarah Gersing, Matteo Cagiada, Marinella Gebbia, Anette P. Gjesing, Atina G. Coté, Gireesh Seesankar, Roujia Li, Daniel Tabet, Jochen Weile, Amelie Stein, Anna L. Gloyn, Torben Hansen, Frederick P. Roth, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen   +14 more
doaj   +1 more source

Ablation of glucokinase-expressing tanycytes impacts energy balance and increases adiposity in mice

Molecular Metabolism, 2021
Objectives: Glucokinase (GCK) is critical for glucosensing. In rats, GCK is expressed in hypothalamic tanycytes and appears to play an essential role in feeding behavior. In this study, we investigated the distribution of GCK-expressing tanycytes in mice
Antoine Rohrbach, Emilie Caron, Rafik Dali, Maxime Brunner, Roxane Pasquettaz, Irina Kolotuev, Federico Santoni, Bernard Thorens, Fanny Langlet   +8 more
doaj   +1 more source

Glucokinase is required for high‐starch diet‐induced β‐cell mass expansion in mice

Journal of Diabetes Investigation, 2021
Aims/Introduction We aimed to determine whether glucokinase is required for β‐cell mass expansion induced by high‐starch diet (HSTD)‐feeding, as has been shown in its high‐fat diet‐induced expansion.
Kazuhisa Tsuchida, Akinobu Nakamura, Hideaki Miyoshi, Kelaier Yang, Yuki Yamauchi, Shinichiro Kawata, Kazuno Omori, Kiyohiko Takahashi, Naoyuki Kitao, Hiroshi Nomoto, Hiraku Kameda, Kyu Yong Cho, Yusuke Seino, Yasuo Terauchi, Tatsuya Atsumi   +14 more
doaj   +1 more source

GCK-MODY diabetes course in persons over 18 years of age: prospective observation

Сахарный диабет, 2021
Most young patients with hyperglycemia have type 1 diabetes and type 2 diabetes but up to 10% of all cases of the disease occur in MODY (Maturity Onset Diabetes of the Young).
A. K. Ovsyannikova, E. V. Shakhtshneider, D. E. Ivanoshchuk, M. I. Voevoda, O. D. Rymar   +4 more
doaj   +1 more source

Molecular and clinical assessment of maturity-onset diabetes of the young revealed low mutational rate in Moroccan families

International Journal of Pediatrics & Adolescent Medicine, 2022
Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterized by autosomal dominant inheritance. To offer an adequate patient management and therapeutic treatment for MODY patients, in addition to an early ...
Said Trhanint, Laila Bouguenouch, Sana Abourazzak, Hanan El Ouahabi, Hanane Latrech, Salma Benyakhlef, Bahia Bennani, Ihssane El Bouchikhi, Fatima Zahra Moufid, Karim Ouldim, Lahsen El Ghadraoui, Nadia Maazouzi   +11 more
doaj   +1 more source

A Comprehensive Analysis of Hungarian MODY Patients—Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases

Life, 2021
MODY2 is caused by heterozygous inactivating mutations in the glucokinase (GCK) gene that result in persistent, stable and mild fasting hyperglycaemia (5.6–8.0 mmol/L, glycosylated haemoglobin range of 5.6–7.3%).
Zsolt Gaál, Zsuzsanna Szűcs, Irén Kántor, Andrea Luczay, Péter Tóth-Heyn, Orsolya Benn, Enikő Felszeghy, Zsuzsanna Karádi, László Madar, István Balogh   +9 more
doaj   +1 more source