Results 101 to 110 of about 1,568 (176)

Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family

, 2015
Adult Polyglucosan Body Disease (APBD) is a rare inherited leukodystrophy associated with axonal polyneuropathy, mainly reported in persons of Ashkenazi-Jewish descent. We describe three Italian siblings at disease onset, presenting in their fifties with
A. Prelle, M. Moggio, I. Colombo, F. Magri, E. Salsano, G.P. Comi, E. D'Adda, M. Riva, A. Bordoni, S. Testolin, L. M. Napoli, S. Pagliarani, L. Farina, L. Morandi, M. Sciacco, S. Salani   +15 more
core   +1 more source

Protein abundance, glycogen concentration, and protein phosphorylation in skeletal muscle from immediately postexercised rats or time-matched sedentary control rats.

(A) Glycogen synthase abundance. (B) Glycogen. (C) HKII abundance. (D) GLUT4 abundance. (E) PGC1α abundance. (F) PDK4 abundance. (G) Representative immunoblots. (H) pAMPKThr172/AMPK ratio. (I) pACC1/2Ser79/212/ACC1/2 ratio.
Yongping Yue (235231), Xiufang Pan (309183), Amy Zheng (6540482), Edward B. Arias (8447694), Dongsheng Duan (235233), Gregory D. Cartee (8447700), Seong Eun Kwak (11648177), Haiyan Wang (25821)   +7 more
core   +1 more source

A novel genetic model provides a unique perspective on the relationship between postexercise glycogen concentration and increases in the abundance of key metabolic proteins after acute exercise.

PLoS ONE
Some acute exercise effects are influenced by postexercise (PEX) diet, and these diet-effects are attributed to differential glycogen resynthesis. However, this idea is challenging to test rigorously. Therefore, we devised a novel genetic model to modify
Seong Eun Kwak, Amy Zheng, Edward B Arias, Haiyan Wang, Xiufang Pan, Yongping Yue, Dongsheng Duan, Gregory D Cartee   +7 more
doaj   +1 more source

Protein abundance, glycogen concentration, and protein phosphorylation determined in skeletal muscle from 9-hour postexercised rats or time-matched sedentary control rats with or without refeeding.

(A) Glycogen synthase abundance. (B) Glycogen. (C) HKII abundance. (D) GLUT4 abundance. (E) PGC1α abundance. (F) PDK4 abundance. (G) Representative immunoblots. (H) pAMPKThr172/AMPK ratio. (I) pACC1/2Ser79/212/ACC1/2 ratio.
Yongping Yue (235231), Xiufang Pan (309183), Amy Zheng (6540482), Edward B. Arias (8447694), Dongsheng Duan (235233), Gregory D. Cartee (8447700), Seong Eun Kwak (11648177), Haiyan Wang (25821)   +7 more
core   +1 more source

Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series

International audienceGlycogen storage disease type IV (GSD IV), also called Andersen disease, or amylopectinosis, is a highly heterogeneous autosomal recessive disorder caused by a glycogen branching enzyme (GBE, 1,4-alpha-glucan branching enzyme ...
Streichenberger, N., Froissart, R., Massardier, J., Laffargue, F., Laurichesse, H., Pettazzoni, M., Collardeau-Frachon, S., Prieur, F., Berenguer-Martin, S., Acquaviva-Bourdain, C., Lefèvre, C. R., Clémenson, A.   +11 more
core   +1 more source

Homozygous missense variant in C2orf69 causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.

Biallelic pathogenic variants in C2orf69 cause a fatal autosomal recessive multisystem disorder characterized by recurrent autoinflammation, hypomyelination, progressive neurodegeneration, microcephaly, failure to thrive, liver dysfunction, respiratory ...
Maier, Michael, Hawkins, Cynthia, Cameron, Jessie, Reversade, Bruno, Blaser, Susan, Oh, Rachel Youjin, Yoon, Grace   +6 more
core   +1 more source

Genome-wide equine preimplantation genetic testing enabled by simultaneous haplotyping and copy number detection

Scientific Reports
In different species, embryonic aneuploidies and genome-wide errors are a major cause of developmental failure. The increasing number of equine embryos being produced worldwide provides the opportunity to characterize and rank or select embryos based on ...
T. De Coster, Y. Zhao, O. Tšuiko, S. Demyda-Peyrás, A. Van Soom, J. R. Vermeesch, K. Smits   +6 more
doaj   +1 more source

Protein abundance, glycogen concentration, and protein phosphorylation determined in skeletal muscle from 5-hour postexercised rats or time-matched sedentary control rats with or without refeeding.

(A) Glycogen synthase abundance. (B) Glycogen. (C) HKII abundance. (D) GLUT4 abundance. (E) PGC1α abundance. (F) PDK4 abundance. (G) Representative immunoblots. (H) pAMPKThr172/AMPK ratio. (I) pACC1/2Ser79/212/ACC1/2 ratio.
Yongping Yue (235231), Xiufang Pan (309183), Amy Zheng (6540482), Edward B. Arias (8447694), Dongsheng Duan (235233), Gregory D. Cartee (8447700), Seong Eun Kwak (11648177), Haiyan Wang (25821)   +7 more
core   +1 more source

The Role of Genetic Mutation in Gene GBE1 In Induce Glycogen Storage Type IV Syndrome [PDF]

Interventions in Obesity & Diabetes, 2019
openaire   +1 more source

Coexistence of Rheumatoid Arthritis, Cerebrovascular Disease, and Alzheimer's Disease: A Case Study With Genetic Insights. [PDF]

Cureus
Frolov A, Maglasang M, Guzman M, Echols MS, Daly DT.   +4 more
europepmc   +1 more source