Results 41 to 50 of about 17,404,319 (246)

Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy [PDF]

, 2021
Glycogen Storage Disease Type I (GSDI) is an inherited disease caused by glucose-6 phosphatase (G6Pase) deficiency, leading to a loss of endogenous glucose production and severe hypoglycemia. Moreover, most GSDI patients develop a chronic kidney disease (
Mithieux, Gilles, Hochuli, Michel, Miliano, Alexane Cannella, Do Cao, Jeremy, Hochuli, Michel; https://orcid.org/, Verzieux, Vincent, Rajas, Fabienne; https://orcid.org/, Rajas, Fabienne, Tortereau, Antonin, Monteillet, Laure, Ardon-Zitoun, Carine, Labrune, Philippe, Duchampt, Adeline, Silva, Marine   +13 more
core   +2 more sources

SPARC Drives Podocyte Mitochondrial Damage and Ferroptosis in Diabetic Kidney Disease Following Klotho Deficiency

Advanced Science, EarlyView.
Klotho deficiency promotes podocyte mitochondrial dysfunction and ferroptosis through activation of the PKCα/CUX1/SPARC/TGFβ‐RII axis. SPARC emerges as a key mediator linking Klotho loss to podocyte injury in DKD and other kidney injury models, suggesting broader implications for CKD progression.
Qing Yang, Huimin Jiang, Chenyang Xiong, Xindi Zhou, Qinqin Tan, Han Xiao, Lan Qiu, Chun Gan, Yaxi Chen, Haiping Yang, Wei Jiang, Qiu Li   +11 more
wiley   +1 more source

Renal artery fibromuscular dysplasia in Pompe disease: A case report

Molecular Genetics and Metabolism Reports, 2018
Vascular involvement in Late Onset Pompe Disease, glycogen storage disease type II characterized by limb-girdle muscle and diaphragmatic weakness, is well documented.
Evangelia Pappa, Constantinos Papadopoulos, Philippe Grimbert, Pascal Laforêt, Guillaume Bassez   +4 more
doaj   +1 more source

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

Chemotherapy‐Activated GSK3β‐DNMT1 Signaling Upregulates CD47 to Evade Macrophage Phagocytosis and Drive Temozolomide Resistance in Glioblastoma

Advanced Science, EarlyView.
Temozolomide treatment activates GSK3β, driving DNMT1 phosphorylation, destabilization, and CD47 promoter hypomethylation in glioblastoma. This epigenetic shift upregulates CD47, enabling TMZ‐treated GBM cells to evade macrophage phagocytosis, survive chemotherapy, and acquire resistance.
Jie Li, Shuai Ying, Yi Zhang, Jingjing Wang, Quan Wan, Lingli Gong, Daxing Xu, Zhenkun Yang, Hongnian Lu, Ying Yin, Xiangming Fang, Zhening Pu   +11 more
wiley   +1 more source

Self‐Assembling Peptide‐Adjuvant Conjugate (SaPAC) Platform for Precision Cancer Immunotherapy

Advanced Science, EarlyView.
A self‐assembling peptide–adjuvant conjugate links neoantigens to TLR7 agonism, forming cationic nanoparticles that enhance lymph‐node retention, dendritic‐cell activation, and antitumor T‐cell immunity. This chemically defined platform shows how synchronized antigen and innate stimulation can be adapted across melanoma, bladder cancer, and triple ...
Yang‐Fan Wu, Jing‐Chu Hu, Ye‐Fan Hu, Wen‐Jun Li, Li Rong, Ren‐Hao Li, Yuan Yao, Lehan Hu, Xiao‐Lei Wang, Bao‐Zhong Zhang, Yicheng Lu, Shing‐Fung Chow, Canhui Su, Thomas Yau, Clive Yik‐Sham Chung, Jian‐Dong Huang   +15 more
wiley   +1 more source

The infantile-onset form of Pompe disease: an autopsy diagnosis

Autopsy and Case Reports, 2015
Pompe disease (PD) is a rare, inherited autosomal recessive metabolic disorder caused by the deficiency of the lysosomal acid alpha-glucosidase (GAA) enzyme described in 1932 by the Dutch pathologist Joannes Cassianus Pompe.
Otávio César Cruz dos Santos
doaj   +1 more source

Glycogen storage disease in a young cat with heart failure

Journal of Veterinary Internal Medicine, 2022
An 8‐month‐old domestic short‐haired female cat presented with acute tachypnea, poor growth, hypothermia, and lethargy. Thoracic radiography showed cardiomegaly with mild pleural effusion, and transthoracic echocardiography identified dilatation of both ...
Shigeki Tanaka, Ryohei Suzuki, Hidekazu Koyama, Noboru Machida, Akira Yabuki, Osamu Yamato   +5 more
doaj   +1 more source

Decoding Biomolecular Phase Separation: From Physiological Roles to Pathological Mechanisms and Therapeutic Biomaterials Design

Advanced Science, EarlyView.
This review systematically elaborates on the mechanisms underlying physiological regulation and pathological dysregulation of biomolecular phase separation. It also summarizes advances in phase‑separation‑targeted therapeutic strategies and the design of functional biomaterials inspired by this process.
Jiawei Zhu, Jingbo Dong, Qiufang Gong, Xuejiao Song, Zhifa Shen, Chao Liang   +5 more
wiley   +1 more source

A Postbiotic‐Inducing Ganoderma applanatum Polysaccharide Repairs the Intestinal Barrier via a Phocaeicola vulgatus ‐ Tridecylic Acid Axis

Advanced Science, EarlyView.
This study identifies GAP2, a bioactive polysaccharide fraction derived from Ganoderma applanatum, as a postbiotic inducer that repairs intestinal barrier damage in a gut microbiota‐dependent manner. GAP2 enriches Phocaeicola vulgatus, which degrades GAP2 and promotes tridecylic acid production, triggering Rho/CDC42 signaling and tight‐junction ...
Chuan Zhang, Miaoyu Li, Tiantian Li, Xiaojie Zang, Haiyang Shi, Yaru Liu, Chengcheng Zhang, Jianxin Zhao, Qixiao Zhai, Wei Chen, Fengwei Tian   +10 more
wiley   +1 more source