Results 61 to 70 of about 67,076 (344)

Mutation analysis of in a patient with glycogen storage disease-type Ib

Journal of International Medical Research, 2019
Objective The aim of the study was to investigate the relationship between SLC37A4 gene mutation and clinical phenotype in a patient with glycogen storage disease-type I.
Yamei Zhang, Huihui Sun, Naijun Wan
doaj   +1 more source

Circulating lipids and lipoproteins in glycogen storage disease type I with nocturnal intragastric feeding.

Journal of Lipid Research, 1988
With the advent of nocturnal intragastric feeding which protects against acute metabolic complications and promotes growth, patients with glycogen storage disease type I are attracting less attention.
E Levy, L A Thibault, C C Roy, M Bendayan, G Lepage, J Letarte   +5 more
doaj   +1 more source

Glycogen storage disease type I (GSD I) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2012
Review on Glycogen storage disease type I (GSD I), with data on clinics, and the genes involved.
Mollet, Boudjemline A, Petit, F, Hubert, Buron A, Trioche, Eberschweiler P, Gajdos, V, Labrune, P   +5 more
openaire   +3 more sources

Rag GTPases are cardioprotective by regulating lysosomal function. [PDF]

, 2014
The Rag family proteins are Ras-like small GTPases that have a critical role in amino-acid-stimulated mTORC1 activation by recruiting mTORC1 to lysosome.
Guan, Kun-Liang, Jewell, Jenna L, Kim, Young Chul, Mo, Jung-Soon, Park, Hyun Woo, Russell, Ryan C, Sadoshima, Junichi, Sciarretta, Sebastiano, Wu, Xiaohui   +8 more
core   +2 more sources

The adipokine sFRP4 induces insulin resistance and lipogenesis in the liver [PDF]

, 2019
Secreted frizzled-related protein (sFRP) 4 is an adipokine with increased expression in white adipose tissue from obese subjects with type 2 diabetes and non-alcoholic fatty liver disease (NAFLD).
Al-Hasani, Hadi, Barbosa, David, Fahlbusch, Pia, Herzfeld de Wiza, Daniella, Hörbelt, Tina, Knebel, Birgit, Kotzka, Jorg, Lapauw, Bruno, Müller-Wieland, Dirk, Ouwens, Margriet, Thoresen, G Hege, Van de Velde, Frederique, Van Nieuwenhove, Yves   +12 more
core   +1 more source

Glycemia Regulation: From Feedback Loops to Organizational Closure. [PDF]

, 2020
Endocrinologists apply the idea of feedback loops to explain how hormones regulate certain bodily functions such as glucose metabolism. In particular, feedback loops focus on the maintenance of the plasma concentrations of glucose within a narrow range ...
Bich, Leonardo, Mossio, Matteo, Soto, Ana M.   +2 more
core   +4 more sources

Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report

Journal of Medical Case Reports
Background Glycogen storage disease type IX is a rare disorder that can cause a wide variety of symptoms depending on the specific deficiency of the phosphorylase kinase enzyme and the organs it affects.
Daniel Zamanfar, Seyed MohammadBagher Hashemi-Soteh, Mobin Ghazaiean, Elham Keyhanian   +3 more
doaj   +1 more source

Modifiable factors affecting renal preservation in type I glycogen storage disease after liver transplantation: a single-center propensity-match cohort study

Orphanet Journal of Rare Diseases, 2021
Background and aims Glycogen storage disease type I (GSD-I) is an autosomal recessive disorder of carbohydrate metabolism, resulting in limited production of glucose and excessive glycogen storage in the liver and kidneys.
Yi-Chia Chan, Kai-Min Liu, Chao-Long Chen, Aldwin D. Ong, Chih-Che Lin, Chee-Chien Yong, Pei-Chun Tsai, Liang-Suei Lu, Jer-Yuarn Wu   +8 more
doaj   +1 more source

RKIP overexpression reduces lung adenocarcinoma aggressiveness and sensitizes cells to EGFR‐targeted therapies

Molecular Oncology, EarlyView.
RKIP, a metastasis suppressor protein, modulates key oncogenic pathways in lung adenocarcinoma. In silico analyses linked low RKIP expression to poor survival. Functional studies revealed RKIP overexpression reduces tumor aggressiveness and enhances sensitivity to EGFR‐targeted therapies, while its loss promotes resistance.
Ana Raquel‐Cunha, Joana Pinheiro, Rui F. Marques, Patrícia Fontão, Diana Cardoso‐Carneiro, Adriana Mendes, Izabela N. F. Gomes, Ana Carolina Laus, Renato J. da Silva‐Oliveira, Rui Manuel Reis, Olga Martinho   +10 more
wiley   +1 more source

Assessment of adeno-associated virus gene therapies efficacy on acid alpha-glucosidase restoration and glycogen storage correction in cardiac muscle of Pompe disease mice using synchrotron infrared and ultraviolet microspectroscopies

Journal of Spectral Imaging, 2019
Pompe disease (glycogen storage disease type II) is a lysosomal storage disorder due to a mutation in the gene that encodes acid alpha-glucosidase (GAA).
Laurence Dubreil, Lydie Lagalice, Johan Deniaud, Antoine Sabourin, Claire Lovo, Karim Bey, Juliette Hordeaux, Chantal Thorin, Christophe Sandt, Frédéric Jamme, Marie-Anne Colle   +10 more
doaj   +1 more source