Results 91 to 100 of about 17,404,319 (246)
Mass Spectrometry Reviews, EarlyView.ABSTRACT The use of MALDI mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this comprehensive review is the twelfth update of the original article published in 1999 and brings coverage of the literature to the end of 2024.
David J. Harvey
wiley +1 more source
Molecular basis and clinical management of Pompe disease
Cardiogenetics, 2013 Pompe disease (glycogenosis type II) is a rare autosomal recessive lysosomal storage disorder due to mutations of the GAA gene, leading to the deficiency of acid α-glucosidase and consequent glycogen storage in various tissues, mainly in the ...
Giancarlo Parenti +9 more
doaj +1 more source
Mass Spectrometry Insights Into Post‐Translational Modifications in Extracellular Vesicles
Mass Spectrometry Reviews, EarlyView.ABSTRACT Extracellular vesicles (EVs) are membrane‐enclosed structures secreted by virtually all living cells, serving as essential mediators of intercellular communication in both physiological and pathological processes. There is growing interest in their potential applications as biomarkers, therapeutic targets, and drug delivery systems, which ...
Dávid Virág +5 more
wiley +1 more source
Obesity, EarlyView.ABSTRACT Objective Incretin‐based obesity therapies (IBTs), especially GLP‐1 receptor agonists (GLP‐1 RAs), effectively treat obesity and improve comorbidities. However, their impact on energy metabolism is unclear. A recent case of acute generalized muscle weakness in a patient with mitochondrial myopathy after tirzepatide exposure raises concerns ...
Bryn Falahee +2 more
wiley +1 more source
, 2014 Purpose: Glycogen storage diseases are a group of inborn errors of glycogen synthesis or catabolism. The outcome for untreated patients can be devastating.
Wang, Jing;Cui, Hong;Lee, Ni-Chung;Hwu, Wuh-Liang;Chien, Yin-Hsiu;Craigen, William J.;Wong, Lee-Jun;Zhang, Victor Wei +1 more
core +1 more source
Obesity, EarlyView.ABSTRACT Objective High‐fat diet represses Ceacam1 transcription via a PPARα‐mediated mechanism to cause insulin resistance before inflammation develops. The current study investigated whether mutating PPRE‐RXRα in Ceacam1 promoter prevents diet‐induced metabolic abnormalities and hepatic fibrosis in male C57BL6/J mice.
Raziyeh Abdolahipour +9 more
wiley +1 more source
The Journal of Pathology, EarlyView.Abstract Propionic acidemia (PA) is a neurometabolic disorder caused by propionyl‐CoA carboxylase deficiency with frequent neurological involvement, yet cell‐type‐specific mechanisms remain poorly defined. We established human induced pluripotent stem cell (iPSC)‐derived astrocytes (iAs) from patients harboring PCCA or PCCB mutations and investigated ...
Irene González‐Garnacho +5 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich +6 more
wiley +1 more source
BMC PediatricsBackground Pompe disease, classified as glycogen storage disease type II, arises from a deficiency in the acid alpha-glucosidase (GAA) enzyme, leading to glycogen accumulation in multiple tissues.
Yasaman Alizadeh +3 more
doaj +1 more source
Juvenile-onset glycogen storage disease type II with novel mutations in acid α-glucosidase gene
, 2003 The authors describe two novel mutations of the acid alpha-glucosidase gene, P361L and R437C, which define the juvenile-onset glycogen storage disease type II (GSDII) in a 16-year-old Chinese patient.
Tong, SF +8 more
core +1 more source