Results 81 to 90 of about 20,402 (244)

Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review

Orphanet Journal of Rare Diseases
Background Pompe disease is caused by pathogenic variants in the GAA gene, resulting in lysosomal acid α-glucosidase (GAA) deficiency. The prevalence of Pompe disease is not well-defined, and estimates vary by geographic region.
Roberto Giugliani, Faryn Solomon, Hani Kushlaf, Erica Wright, Tmirah Haselkorn, Edmar Zanoteli, Benedikt Schoser   +6 more
doaj   +1 more source

Recent Perspectives on Phytochemical Profile, Pharmacological Activities, and Industrial Applications of Guava (Psidium guajava)

Food Safety and Health, EarlyView.
Psidium guajava leaves contain potent bioactive compounds like quercetin, myricetin, and triterpenoids that show antioxidant, antidiabetic, anti‐inflammatory, and anticancer effects. They act by modulating NF‐κB, PPARγ, and α‐glucosidase and by inducing apoptosis and cell cycle arrest.
Muhammad Waqar, Sehrish Jabbar, Qudrat Ullah, Farhang Hameed Awlqadr, Muhammad Tayyab Arshad, Md. Sakhawot Hossain, Sammra Maqsood, Ali Ikram, Ammar Ahmad Khan, Worawan Panpipat, Manat Chaijan   +10 more
wiley   +1 more source

Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease

Chinese Medical Journal, 2018
Background: Pompe disease is a rare lysosomal glycogen storage disorder linked to the acid alpha-glucosidase gene (GAA). A wide clinical and genetic variability exists between patients from different ethnic populations, and the genotype-phenotype ...
Hua-Xu Liu, Chuan-Qiang Pu, Qiang Shi, Yu-Tong Zhang, Rui Ban   +4 more
doaj   +1 more source

Sleep deprivation aggravates hepatocytes steatosis and insulin resistance by regulating exosomal microRNAs

Interdisciplinary Medicine, EarlyView.
Sleep deprivation accelerates the progression of MASLD and IR by up‐regulating the expression of miR‐3572‐5p and down‐regulating the expression of miR‐183‐5p in circulating exosomes, thereby inhibiting fatty acid β‐oxidation and disrupting insulin signaling pathways. Abstract Sleep deprivation (SD) threatens human health and increases the prevalence of 
Xinxin Xu, Lulu Li, Ying Cao, Ying Wang, Chao Yang, Alexander Nikolaevich Orekhov, Yuanfeng Lu, Houbin Chu, Chuanrong Zhao, Guixue Wang, Guohua Song   +10 more
wiley   +1 more source

Late-onset glycogen storage disease type 2.

, 2014
Glycogenosis II (GSDII) is an autosomal recessive lysosomal storage disorder resulting from acid alpha-glucosidase (GAA) deficiency, subsequent lysosomal accumulation of glycogen in muscles, impairment of autophagic processes and progressive cardiac ...
Cotelli M. S., Rinaldi F., SCARPELLI, Mauro, Scarpelli M., Filosto M., Padovani A., Rota S., Vielmi V., Todeschini A.   +8 more
core   +1 more source

The regulation of stem cell fate and its application in neural regeneration

Interdisciplinary Medicine, EarlyView.
Regulating stem cell fate is crucial for neural regeneration. This review summarizes key physical, biological, and chemical strategies and their applications in repairing nerve injuries, providing new insights for regenerative medicine. Abstract Regulating the fate of stem cells (SCs) is a key technical problem in the field of regenerative medicine and
Yuexin He, Xingyu Chen, Minghong He, Zhe Li   +3 more
wiley   +1 more source

Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease

Frontiers in Neurology
Enzyme replacement therapy (ERT) is the only approved disease-modifying treatment modality for Pompe disease, a rare, inherited metabolic disorder caused by a deficiency in the acid α-glucosidase (GAA) enzyme that catabolizes lysosomal glycogen.
Barry J. Byrne, Giancarlo Parenti, Giancarlo Parenti, Benedikt Schoser, Ans T. van der Ploeg, Hung Do, Brian Fox, Mitchell Goldman, Franklin K. Johnson, Jia Kang, Nickita Mehta, John Mondick, M. Osman Sheikh, Sheela Sitaraman Das, Steven Tuske, Jon Brudvig, Jill M. Weimer, Tahseen Mozaffar   +17 more
doaj   +1 more source

LEUKOCYTE DEBRANCHING ENZYME IN GLYCOGEN STORAGE DISEASE

, 1962
In recent years the classification of glycogen storage disease has been based on the demonstration of a specific enzyme defect for each type (1-4). Type I, glycogenosis or von Gierke's disease, results from the lack of glucose 6-phosphatase (1 ...
E. Williams, Esther M. Kendig, James B
core  

Glycogen storage disease type II: Birth prevalence agrees with predicted genotype frequency

, 1999
OBJECTIVES: To compare the overall birth prevalence of diagnosed glycogen storage disease type II (GSD II) with the predicted frequency based on mutation screening, in order to determine whether GSD II is an underdiagnosed condition, and to analyze which
Wokke, J. H., Ausems, M G, Diggelen, O.P. van, Ploeg, A.T. van der, Kroos, M.A., Wevers, RA, Ausems, M.G.E.M., Poorthuis, B. J., van Diggelen, O P, Reuser, A.J.J., van der Ploeg, Ans, Poorthuis, B J, Poorthuis, BJHM, Sandkuijl, L. A., Beemer, F A, Sandkuijl, L A, Haan, Marian, Wevers, R. A., Beemer, F.A., van der Ploeg, A. T., Beemer, F. A., Reuser, A J, Wokke, J H, Berg, K. ten, Wevers, R.A., Reuser, Arnold, Kroos, M A, Kroos, M. A., Wokke, JHJ, Ausems, MGEM, Beemer, FA, Reuser, A. J., Sandkuyl, LA, Niezen-Koning, K.E., Wokke, J.H.J., ten Berg, K, Niezen-Koning, K. E., Sandkuijl, L.A., Wevers, R A, Poorthuis, B.J.H.M., Ausems, M. G., ten Berg, K., van Diggelen, O. P., Diggelen, Otto, Niezen-Koning, K E; id_orcid, Niezen-Koning, K E, van der Ploeg, A T, Niezen-Koning, KE   +47 more
core   +1 more source

GSK3β drives early diabetic tubulopathy via TFEB‐mediated mitochondrial dysfunction

Interdisciplinary Medicine, EarlyView.
Mitochondrial dysfunction, including mitochondrial biogenesis, mitophagy, dynamics and oxidative stress, occurs in the early stages of diabetic tubulopathy, which precede proteinuria and renal histological changes. GSK3β is a potential novel biomarker for the prediction of diabetic tubulopathy.
Lan Yao, Xianhui Liang, Bingyu Li, Bohan Chen, Xiaoyang Wang, Mei Hong, Qi Feng, Yingjin Qiao, Zhangsuo Liu, Kai Wang, Pei Wang   +10 more
wiley   +1 more source