Results 51 to 60 of about 20,402 (244)

A Brain‐Penetrant Nanobody Reveals GSK3β‐Driven Proline‐Directed Phosphorylation as a Master Regulator of Ischemic Neurodegeneration

Advanced Science, EarlyView.
A brain‐targeted nanoparticle enables delivery of a therapeutic nanobody (Nb.29E9) that inhibits pathogenic GSK3β signaling. This intervention restores AMPK/mTORC1/TGFβ homeostasis, attenuates neuroinflammation and oxidative stress, and promotes long‐term functional recovery after ischemic stroke.
Lan Li, Muyang Li, Lei Sun, Ying Yang, Yuanshun Wu, Ziyi Yin, Anni Wang, Peiyang Zhou, Shaoxiang Luo, Jian Chen, Jun Qin, Zhibing Ai, Zilong Yuan, Zhiqiang Dong, Min Zhang   +14 more
wiley   +1 more source

Functional assessment using short tests in a patient with Pompe disease receiving enzyme replacement therapy: case report

Case Reports, 2019
Introduction: Pompe disease is characterized by the deficiency of the acid alfa glucosidase enzyme, which leads to a glycogen accumu­lation mainly in cardiac and skeletal muscles.
Thomas Torres-Cuenca, Jorge Arturo Díaz-Ruíz, Fernando Ortiz-Corredor   +2 more
doaj   +1 more source

Mutation detection in glycogen storage disease type II by RT-PCR and automated sequencing [PDF]

, 1997
A new method is described for detection of mutations in the lysosomal a-glucosidase gene (GAA) leading to Glycogen Storage Disease type II (GSDII). A key feature of the method is isolation and reverse transcription of mRNA followed by PCR amplification ...
Hermans, MMP (Monique), Reuser, Arnold, Kroos, M.A. (Marian), Reuser, A.J.J. (Arnold), Haan, Marian, Hermans, M.M.P. (Monique), Leenen, D. (Dik) van, van Leenen, D (Dik)   +7 more
core   +1 more source

A Single‐Cell Transcriptomic Atlas of the Ovine Rumen Microbiome Characterizes Lineage‐Specific Metabolic Shifts Associated with Host Heat Tolerance

Advanced Science, EarlyView.
An optimized single‐cell transcriptomic framework profiles over 60 000 cells to map the ovine rumen microbiome, partitioning the ecosystem into seven cross‐species functional clusters. In heat‐resistant hosts, a lineage‐specific metabolic shift in Anaerovibrio lipolyticus toward a highly glycolytic phenotype contributes to a “nutritional sparing ...
Sanbao Zhang, Qinyang Jiang, Junjie Ma, Jianwei Zou, Fan Wang, Feifei Lv, Yanna Huang, Yongcheng Wang, Ziye Xu   +8 more
wiley   +1 more source

UHPLC–MS based metabolomics study of the ErZhi formula on skeletal muscle against osteosarcopenia focusing on energy metabolism

Animal Models and Experimental Medicine, EarlyView.
ErZhi formula (EZF) is composed of Ligustri Lucidi Fructus (LLF) and Ecliptae herba (EH). Ovariectomized (OVX) and sham rats received 12‐week intragastric treatment with EZF, alendronate, and vehicle saline. Gastrocnemius tissues were harvested to systematically evaluate pharmacodynamic changes in skeletal muscle morphology, mitochondrial ...
Yuqing Pang, Ningning Li, Yujie Ding, Shuzhen Hou, Jing Liu, Xiuxue Liu, Erwei Liu, Xiaopeng Chen   +7 more
wiley   +1 more source

Characterization of the extracellular matrix from human and dog umbilical cords

The Anatomical Record, EarlyView.
Abstract The extracellular matrix is important for maintaining tissue morphogenesis and homeostasis; it can also be used as a biomaterial for the production of biological scaffolds. Particularly, the umbilical cord has shown potential in the production of scaffolds for small‐diameter vessels.
Ana Carla Mendonça, Roberta Losi Guembarovski, Carlos Alberto Miqueloto, Alda Fiorina Maria Losi Guembarovski, Caio Garcia Barbosa da Silva, Laís Capelasso Lucas Pinheiro, Phelipe Oliveira Favaron   +6 more
wiley   +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

, 2010
[[abstract]]Glycogen-storage disease type II (GSDII; OMIM #232300), an autosomal recessive disorder caused by a deficiency of the glycogen hydrolysis enzyme acid alpha-glucosidase (acid GAA; acid maltase, EC.
Wan, L (Wan, Lei); Lee, CC (Lee, Cheng-Chun); Hsu, CM (Hsu, Chin-Moo); Hwu, WL (Hwu, Wuh-Liang); Yang, CC (Yang, Chih-Chao); Tsai, CH (Tsai, Chang-Hai); Tsai, FJ (Tsai, Fuu-Jen)
core   +1 more source

A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds.

PLoS ONE, 2013
Pompe disease is a recessively inherited and often fatal disorder caused by the deficiency of acid α-glucosidase, an enzyme encoded by the GAA gene and needed to break down glycogen in lysosomes.
Eija H Seppälä, Arnold J J Reuser, Hannes Lohi   +2 more
doaj   +1 more source

Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian study

, 2015
Angiotensin converting enzyme (ACE)-inhibitors decrease glomerular hyperfiltration but not microalbuminuria and proteinuria in glycogen storage disease type I.
MELIS, DANIELA, Paci, Sabrina, COZZOLINO, MARIAROSARIA, Dionisi Vici, Carlo, PARENTI, GIANCARLO, Burlina, Alberto, BALIVO, FRANCESCA, Rigoldi, Miriam, Minopoli, Giorgia, Parini, Rossella, ANDRIA, GENEROSO   +10 more
core   +1 more source

Glycogen storage disease type Ia: Current management options, burden and unmet needs

, 2021
Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism. Affected individuals cannot release glucose during fasting and accumulate excess glycogen and fat in the liver and kidney ...
Rodriguez-Buritica D. F., Fischinger Moura de Souza C., Saavedra H., Derks T. G. J., Labrune P., de Boer F., Grunert S. C., Gupta R. N., Riba-Wolman R., Rossi A., Valayannopoulos V., Mitchell J., Couce M. L., Ahmad A., Lopez Maldonado N.   +14 more
core   +1 more source