Results 101 to 110 of about 20,402 (244)

Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing

BMC Pediatrics
Background 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, Hossein Saidi, Vahid Saeedi, Leila Kamalzadeh   +3 more
doaj   +1 more source

X-Linked Liver Glycogenosis in a Taiwanese Family: Transmission from Undiagnosed Males

, 2011
X-linked liver glycogenosis (XLG), also known as glycogen storage disease type-IXa, is characterized by hepatomegaly, abnormal liver functions and growth retardation.
陳思達;陳慧玲;倪衍玄;簡穎秀;鄭永銘;張美惠;胡務亮, CHEN, SZU-TAH;CHEN, HUEY-LING;NI, YEN-HSUAN;CHIEN, YIN-HSIU;JENG, YUNG-MING;CHANG, MEI-HWEI;HWU, WUH-LIANG   +1 more
core   +1 more source

Secular Trend in Glycaemic Management in Type 2 Diabetes Patients With and Without Cirrhosis Between 2000 and 2023: A Territory‐Wide Cohort Study

Alimentary Pharmacology &Therapeutics, EarlyView.
In this territory‐wide cohort study, improving glycemic control can be observed regardless of cirrhosis status. Oral antidiabetic medication was more often used in the non‐cirrhosis group, and insulin was preferred in patients with decompensated cirrhosis, who exhibited an increasing incidence of hypoglycemia over the years and need individualized ...
Mary Yue Wang, Sherlot Juan Song, Nana Peng, Grace Lai‐Hung Wong, Vincent Wai‐Sun Wong, Jimmy Che‐To Lai, Terry Cheuk‐Fung Yip   +6 more
wiley   +1 more source

Glucose 6-phosphate transport in fibroblast microsomes from glycogen storage disease type 1b patients: evidence for multiple glucose 6-phosphate transport systems

, 2001
In liver endoplasmic reticulum the intralumenal glucose-6-phosphatase activity requires the operation of a glucose 6-phosphate transporter (G6PT1). Mutations in the gene encoding G6PT1 cause glycogen storage disease type 1b, which is characterized by a ...
Fulceri, Rosella, Zammarchi, Enrico, BURCHELL, A., STAFFORD, K., Banhegyi, Gábor, BANHEGYI, G., Marcolongo, Paola, Leuzzi, Rosanna, ZAMMARCHI, E., Burchell, Ann, BENEDETTI, A., Benedetti, Angelo, MARCOLONGO, P., FULCERI, R., Stafford, Kirsten, LEUZZI, R.   +15 more
core   +1 more source

Wasteosomes accumulate in periventricular white matter hyperintensities and exhibit complex relationships with mixed pathology, sclerotic index, and perivascular space

Brain Pathology, EarlyView.
In a mixed diagnostic cohort of pathologically diagnosed Alzheimer's disease, cerebrovascular disease, mixed pathology, and control tissue, we connected the histopathological wasteosome profile in periventricular (PV) brain sections to 7T FLAIR‐MRI confirmed PV white matter hyperintensities (WMHs), vascular stenosis and perivascular space size ...
Nikita Ollen‐Bittle, Isabella Boesgaard, Austyn Roseborough, Meaghan Frank, Qi Zhang, Stephen H. Pasternak, Robert Hammond, Shawn N. Whitehead   +7 more
wiley   +1 more source

Late onset glycogen storage disease type II: Pitfalls in the diagnosis

, 2012
Background/Aims: Glycogen storage disease type II (GSD-II) is a lysosomal disorder caused by acid α glucosidase (GAA) deficiency. The infantile form is easier to recognize compared with the milder adult form that may manifest as myopathy without specific
Spengos, K., Papadopoulos, C., Papadimas, G.K., Manta, P.   +3 more
core  

Is there a role for cannabidiol in obesity, metabolic syndrome and binge eating?

British Journal of Pharmacology, EarlyView.
Cannabidiol (CBD) is one of the most abundant phytocannabinoids isolated from the Cannabis sativa plant. CBD is a lipophilic, non‐intoxicating substance that differently from Δ9‐tetrahydrocannabinol (Δ9‐THC) does not present the typical profile of a drug of abuse.
Luca Botticelli, Emanuela Micioni Di Bonaventura, Giacomo Einaudi, Gustavo Provensi, Alessia Costa, Claudio D'Addario, Carlo Cifani, Maria Vittoria Micioni Di Bonaventura   +7 more
wiley   +1 more source

Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II

, 1999
Pompe's disease or glycogen storage disease type II (GSDII) belongs to the family of inherited lysosomal storage diseases. The underlying deficiency of acid alpha-glucosidase leads in different degrees of severity to ...
Bijvoet, A.G.A. (Agnes), Hirtum, H. (Hans) van, Schoneveld, O., Kroos, M.A. (Marian), Brakenhoff, J.P. (Just), Reuser, A.J.J. (Arnold), Visser, P. (Pim), Ploeg, A.T. (Ans) van der, Corven, E.J.J.M. (Emiel) van, Weggeman, M. (Miranda), Kamp, E.H. van de   +10 more
core  

PDE4D and PDE3B orchestrate distinct cAMP microdomains in 3T3‐L1 adipocytes

British Journal of Pharmacology, EarlyView.
Basal conditions: •Ins/PDE3B lowers cytoplasmic cAMP (cyt‐cAMP) without affecting plasma membrane cAMP (pm‐cAMP). •Insulin decreases lipid droplet cAMP (LD‐cAMP) independent of PDE3B. •FGF1/PDE4D modestly reduces both cyt‐ and pm‐cAMP, while PDE4D alone can modulate LD‐cAMP. ISO stimulation: •Ins/PDE3B has minimal impact on cyt‐cAMP.
Johannes Krier, David Spähn, David Arturo Juarez Lopez, Judith L. Nono, Judith Seigner, Lisa Jacob, Siegfried Ussar, Robert Lukowski, Andreas L. Birkenfeld, Gencer Sancar   +9 more
wiley   +1 more source

Targeting the noncatalytic activity of GSK3β modulates neuronal excitability in medium spiny neurons via Nav1.6 interactions

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Kinases phosphorylate ion channels, but their noncatalytic roles via protein–protein interactions (PPI) are less understood. Here, we identified the peptidomimetic ZL141 to characterize the PPI between GSK3β and Nav1.6, revealing a noncatalytic role for GSK3β in regulating Nav1.6 currents and neuronal excitability ...
Aditya K. Singh, Zahra Haghighijoo, Akanksha Gurtu, Nolan M. Dvorak, Timothy J. Baumgartner, Nana A. Goode, Jully Singh, Matteo Bernabucci, Adam T. Szafran, Michael J. Bolt, Michael A. Mancini, Natalie M. Dvorak, Marijn Lijffijt, Zhiqing Liu, Yu Xue, Alyssa K. Thomas, Alejandro Villasante‐Tezanos, Balaji Krishnan, Jia Zhou, Fernanda Laezza   +19 more
wiley   +1 more source