Results 91 to 100 of about 20,402 (244)

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

BMC Medical Genetics, 2019
Background Pompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. 3.2.1.20) due to mutations in human GAA gene.
Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Jisnuson Svasti   +12 more
doaj   +1 more source

Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II

, 2009
[[abstract]]Glycogen storage disease type II is an autosomal recessive muscle disorder due to deficiency of lysosomal acid α-glucosidase and the resulting intralysosomal accumulation of glycogen.
Lei Wan;Cheng-Chun Lee;Chin-Moo Hsu;Hwu WL;Yang CC;Chang-Hai Tsai;Fuu-Jen Tsai
core  

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, Krisztián Márk Karvaly, Alexandra Molnár, Mirjam Balbisi, Júlia Németh, Lilla Turiák   +5 more
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, Giuseppe Di Iorio, Simone Sampaolo, Giuseppe Fiorentino, Vincenzo Farina, Simona Fecarotta, Fabio Valente, Serena Ascione, Mario Caputi, Generoso Andria   +9 more
doaj   +1 more source

Proteomic Profiling of Primary Hippocampal Neurons Reveals Noncanonical GFAP Expression and Metabolic Adaptations in Glia‐Free Culture

PROTEOMICS, EarlyView.
ABSTRACT Despite their widespread use as a research model, a comprehensive, quantitative proteomic profile of the cultured hippocampal neurons has remained unexplored. Here, we provide the first global proteomic characterization of primary murine hippocampal neurons cultured for 14 days under near‐physiological glucose conditions (2.5 mM).
Dominika Drulis‐Fajdasz, Kinga Gostomska‐Pampuch, Natalia Pudełko‐Malik, Mariusz Fleszar, Agnieszka Gizak, Jacek R. Wiśniewski, Dariusz Rakus   +6 more
wiley   +1 more source

Head‐to‐Head Comparison of Four Ultrasound Elastography Techniques in Detecting Advanced Fibrosis

Portal Hypertension &Cirrhosis, EarlyView.
Elastography is an important noninvasive method for diagnosing advanced fibrosis (AF); however, evidence remains insufficient, particularly regarding acoustic radiation force impulse (ARFI) techniques. This prospective mulitcenter study concludes that vibration controlled transient elastography (VCTE) demonstrates superior diagnostic performance to ...
Jiahao Han, Lichen Chu, Lixin Yang, Kexin Lou, Guangbin Dou, Huiming Shen, Xiaojun Cheng, Zuowei Bao, Jia Li   +8 more
wiley   +1 more source

HvarAKR1B1‐mediated tolerance in Hippodamia variegata: Deciphering the metabolic adaptation and fitness costs under prolonged starvation

Pest Management Science, EarlyView.
Starvation stress significantly affected the growth and development of Hippodamia variegata. Combined transcriptome and metabolome analysis and RNA interference verification revealed that HvarAKR1B1 may be involved in the response of Hippodamia variegata to starvation stress.
Bing‐mei Song, De‐qin Hu, Yuan Li, Wang‐quan Jiao, Xiao‐li Ma, Hong‐sheng Pan   +5 more
wiley   +1 more source

Replacing acid is proportional to-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers

, 2005
Pompe disease (type II glycogen storage disease) is an autosomal recessive disorder caused by a deficiency of lysosomal acid alpha-glucosidase (GAA) leading to the accumulation of glycogen in the lysosomes primarily in cardiac and skeletal muscle.
Nagaraju, K., Gilbert, A., Mattaliano, R., Thurberg, B., Hopwood, J., Fukuda, T., de Jong, D., Nagashima, K., Plotz, P., Meikle, P., Raben, N.   +10 more
core   +1 more source

Tributyltin Protumorigenic Effects Targeting Prostate Cancer Cell Metabolism, Proliferation, Migration, and Invasion

Environmental Toxicology, EarlyView.
ABSTRACT Prostate cancer (PCa) is an endocrine‐related cancer highly dependent on androgenic signaling. Beyond hormone dependence, extrinsic factors play a significant role in the risk of developing PCa, which raises concern about the influence of environmental compounds such as endocrine‐disrupting chemicals (EDCs). Tributyltin (TBT) is an EDC used in
Mariana Feijó, Luís P. Brás, Catarina M. D. Serra, Lara R. S. Fonseca, Sara Correia, Bruno J. Pereira, Ana P. Duarte, Henrique J. Cardoso, Cátia V. Vaz, Sílvia Socorro   +9 more
wiley   +1 more source

Rotenone Induces Morphological Damage and Reduction in Catecholamine Levels in the Central Nervous System of the Ascidian Styela plicata

Environmental Toxicology, EarlyView.
ABSTRACT Ascidians are invertebrates that occupy a key phylogenetic position as a sister group of the vertebrates. The organization of their central nervous system (CNS), with cortex and medulla, indicates a plesiomorphic character of the gray and white matter of vertebrates, making this group of animals useful for studies of neurodegenerative events ...
Andressa de Abreu Mello, Carlos Augusto Borges de Andrade Gomes, Rafaela Rocha dos Santos, Cintia Monteiro de Barros, Silvana Allodi   +4 more
wiley   +1 more source