Results 21 to 30 of about 2,890 (187)

CD44 and RHAMM are essential for rapid growth of bladder cancer driven by loss of Glycogen Debranching Enzyme (AGL). [PDF]

BMC Cancer, 2016
Oldenburg D, Ru Y, Weinhaus B, Cash S, Theodorescu D, Guin S.   +5 more
europepmc   +3 more sources

Structural insight into the bifunctional mechanism of the glycogen-debranching enzyme TreX from the archaeon Sulfolobus solfataricus. [PDF]

J Biol Chem, 2008
Woo EJ, Lee S, Cha H, Park JT, Yoon SM, Song HN, Park KH.   +6 more
europepmc   +3 more sources

LEUKOCYTE DEBRANCHING ENZYME IN GLYCOGEN STORAGE DISEASE [PDF]

Journal of Clinical Investigation, 1963
Hibbard E. Williams, Esther Kendig, James B. Field   +2 more
openalex   +3 more sources

Generation of three induced pluripotent stem cell lines from patients with glycogen storage disease type III

Stem Cell Research, 2023
Glycogen storage disease type III (GSDIII) is an autosomal recessive disorder characterized by a deficiency of glycogen debranching enzyme (GDE) leading to cytosolic glycogen accumulation and inducing liver and muscle pathology.
Lucille Rossiaud, Emilie Pellier, Manon Benabides, Xavier Nissan, Giuseppe Ronzitti, Lucile Hoch   +5 more
doaj   +1 more source

Molecular basis of impaired glycogen metabolism during ischemic stroke and hypoxia. [PDF]

PLoS ONE, 2014
BACKGROUND: Ischemic stroke is the combinatorial effect of many pathological processes including the loss of energy supplies, excessive intracellular calcium accumulation, oxidative stress, and inflammatory responses.
Mohammed Iqbal Hossain, Carli Lorraine Roulston, David Ian Stapleton   +2 more
doaj   +1 more source

Two Enzyme Activities of Yeast Glycogen Debranching Enzyme and Their Catalytic Residues.

Journal of Applied Glycoscience, 2002
Akifumi Nakayama, Kwizo Yamamoto, Kokoro Inaoka, Shiro Tabata   +3 more
openalex   +3 more sources

Novel AGL variants in a patient with glycogen storage disease type IIIb and pulmonary hypertension caused by pulmonary veno-occlusive disease: A case report

Frontiers in Genetics, 2023
Glycogen storage disease type III (GSD-III) is an autosomal recessive metabolic disorder caused by mutations in the AGL gene, and may develop various types of pulmonary hypertension (PH).
Akito Shindo, Kazutaka Ueda, Shun Minatsuki, Yukiteru Nakayama, Satoshi Hatsuse, Kanna Fujita, Seitaro Nomura, Masaru Hatano, Norifumi Takeda, Hiroshi Akazawa, Issei Komuro   +10 more
doaj   +1 more source

Pathological modeling of glycogen storage disease type III with CRISPR/Cas9 edited human pluripotent stem cells

Frontiers in Cell and Developmental Biology, 2023
Introduction: Glycogen storage disease type III (GSDIII) is a rare genetic disease caused by mutations in the AGL gene encoding the glycogen debranching enzyme (GDE).
Lucille Rossiaud, Lucille Rossiaud, Lucille Rossiaud, Lucille Rossiaud, Lucille Rossiaud, Pascal Fragner, Pascal Fragner, Pascal Fragner, Elena Barbon, Elena Barbon, Antoine Gardin, Antoine Gardin, Manon Benabides, Manon Benabides, Manon Benabides, Emilie Pellier, Emilie Pellier, Emilie Pellier, Jérémie Cosette, Lina El Kassar, Lina El Kassar, Lina El Kassar, Karine Giraud-Triboult, Karine Giraud-Triboult, Karine Giraud-Triboult, Xavier Nissan, Xavier Nissan, Xavier Nissan, Giuseppe Ronzitti, Giuseppe Ronzitti, Lucile Hoch, Lucile Hoch, Lucile Hoch   +32 more
doaj   +1 more source

Dysfunctional muscle and liver glycogen metabolism in mdx dystrophic mice. [PDF]

PLoS ONE, 2014
Duchenne muscular dystrophy (DMD) is a severe, genetic muscle wasting disorder characterised by progressive muscle weakness. DMD is caused by mutations in the dystrophin (dmd) gene resulting in very low levels or a complete absence of the dystrophin ...
David I Stapleton, Xianzhong Lau, Marcelo Flores, Jennifer Trieu, Stefan M Gehrig, Annabel Chee, Timur Naim, Gordon S Lynch, René Koopman   +8 more
doaj   +1 more source

Suppression of pullulanase-induced cytotoxic T cell response with a dual promoter in GSD IIIa mice

JCI Insight, 2022
Glycogen debranching enzyme deficiency in glycogen storage disease type III (GSD III) results in excessive glycogen accumulation in multiple tissues, primarily the liver, heart, and skeletal muscle.
Jeong-A Lim, Priya S. Kishnani, Baodong Sun   +2 more
doaj   +1 more source