Results 31 to 40 of about 25,377 (250)

Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b

Diabetology & Metabolic Syndrome, 2023
Background Glycogen storage disease type 1b (GSD1b) is an autosomal recessive lysosomal storage disease caused by defective glucose-6-phosphate transporter encoded by SLC37A4 leading to the accumulation of glycogen in various tissues.
Latifa Chkioua, Yessine Amri, Chayma Sahli, Ferdawes Ben Rhouma, Amel Ben Chehida, Neji Tebib, Taieb Messaoud, Hassen Ben Abdennebi, Sandrine Laradi   +8 more
doaj   +1 more source

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

Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?

Molecular Genetics and Metabolism Reports, 2022
Introduction: Biotinidase synthesis is needed to recycle biotin for essential metabolic reactions. Biotinidase activity is lower than normal levels in advanced liver disease but is higher in hepatic glycogen storage disorders (GSDs), however the cause of
Areeg El-Gharbawy, Adviye A. Tolun, Carine A. Halaby, Stephanie L. Austin, Priya S. Kishnani, Deeksha S. Bali   +5 more
doaj   +1 more source

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

CCDC80 suppresses high‐grade serous ovarian cancer migration via negative regulation of B7‐H3

Molecular Oncology, EarlyView.
PAX8 is a lineage‐specific master regulator of transcription in high‐grade serous ovarian cancer (HGSC) progression. We show for the first time that PAX8 facilitates proliferation and metastasis by repressing the cell autonomous tumor suppressor CCDC80 and inducing B7‐H3 expression.
Aya Saleh, Nitzan Medina‐Itzhaki, Milena Chekov, Eden Gal‐Swisa, Roba Gabesh‐Wahabi, Inbar Savyon, Inna Naroditsky, Hilary A. Kenny, Basem Fares, Lina Korsensky, Einav Girsh, Liron Berger, Ruth Perets   +12 more
wiley   +1 more source

Mesenchymal Stromal Cell‐Mediated Intercellular Communication: Mapping the Interactome for Skeletal Muscle Homeostasis and Regeneration

Advanced Science, EarlyView.
Liu et al. define a systems‐level interactome of fibroadipogenic progenitor (FAP)‐mediated signaling in skeletal muscle by integrating single‐cell transcriptomics with FAP depletion‐based perturbation analysis. Functional interrogation using a conditioned media bioassay links predicted signaling to multicellular outcomes, establishing a framework to ...
Xingyu Liu, Edgar E. Perez Carbajal, Yih‐Chii Hwang, Sahil A. Mapkar, Benjamin W. Gilman, Sarah A. Bliss, Lam B. Tran, Kalgi T. Mehta, Jacob O. Banyasz, Ming Yu, Reynold R. Liu, Matthew N. Ly, Christapher S. Morrissey, Michael N. Wosczyna   +13 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

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

Genome‐Wide CRISPR Screen Identifies a microRNA Orchestrating Pleiotropic Resistance to Targeted Therapy and T Cell Immunity in Melanoma

Advanced Science, EarlyView.
A genome‐wide microRNA CRISPR screen identifies miR‐18a as a master regulator of cross‐resistance in melanoma. Loss of miR‐18a activates the AJUBA–YAP/Hippo axis to confer BRAFi resistance and enhances THBS1–CD47 interaction to impair CD8+ T cell immunity. hnRNP A1 is identified as an upstream regulator of miR‐18a processing.
Zhao Wang, Haotian Liu, Xueqi Wang, Jianjin Teng, Zihan Zheng, Jingya Zhang, Wanyi Xiao, Qian Liang, Jiaxin Li, Xiaomeng Jia, Xin Feng, Hongzhang Cui, Menghan Luo, Tielong Yang, Liuxing Wu, Ke Zhao, Weilong Yang, Mulin Jun Li, Dandan Huang, Jilong Yang   +19 more
wiley   +1 more source