Results 71 to 80 of about 172,120 (351)

Portacaval shunt for glycogen storage disease and hyperlipidaemia. [PDF]

, 1977
Complete portacaval shunt was used to treat 10 patients with glycogen storage disease. A favourable effect was noted on body growth and a number of metabolic abnormalities.
Benichou, J, Porter, KA, Putnam, CW, Starzl, TE   +3 more
core  

Fenofibrate rapidly decreases hepatic lipid and glycogen storage in neonatal mice with glycogen storage disease type Ia.

Human Molecular Genetics, 2019
Glycogen Storage Disease Type Ia (GSD Ia) is caused by autosomal mutations in G6PC and can present with severe hypoglycemia, lactic acidosis, and hypertriglyceridemia.
Zollie Yavarow, H. Kang, Lauren R. Waskowicz, B. Bay, S. Young, P. Yen, D. Koeberl   +6 more
semanticscholar   +1 more source

ALKBH3 m1A Demethylase Deficiency Reduces Alzheimer's Amyloid‐β Pathology

Advanced Science, EarlyView.
This study identifies that ALKBH3‐driven m1A demethylation orchestrates Alzheimer's disease progression by disrupting mitochondrial and synaptic homeostasis. This epitranscriptomic mechanism suppresses PINK1‐mediated mitophagy via m1A erasure, leading to mitochondrial dysfunction, oxidative stress, elevated Aβ production, and impaired microglial ...
Yueyang Li, Sifei Yu, Kaidong Lu, Yujie Zhang, Mingjie Dong, Yan Peng, Liang Xue, Waleed Alam, Yuxuan Shui, Yi Zhou, Wuyunhan Ma, Meng Bao, Peiming Li, Peiyi Luo, Tiezhan Lu, Jiajia Li, Kang Zhang, Yuying Wang, Shuchen Yang, Nuoya Yin, Francesco Faiola, Zilong Gao, Jingfeng Zhou, Fei Zhao, Yali He, Magdalena J. Koziol   +25 more
wiley   +1 more source

Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report

Journal of Medical Case Reports
Background Glycogen storage disease type IX is a rare disorder that can cause a wide variety of symptoms depending on the specific deficiency of the phosphorylase kinase enzyme and the organs it affects.
Daniel Zamanfar, Seyed MohammadBagher Hashemi-Soteh, Mobin Ghazaiean, Elham Keyhanian   +3 more
doaj   +1 more source

Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism

EMBO Molecular Medicine, 2021
This work employs adult polyglucosan body disease (APBD) models to explore the efficacy and mechanism of action of the polyglucosan‐reducing compound 144DG11.
Or Kakhlon, Hilla Vaknin, Kumudesh Mishra, Jeevitha D’Souza, Monzer Marisat, Uri Sprecher, Shane Wald‐Altman, Anna Dukhovny, Yuval Raviv, Benny Da’adoosh, Hamutal Engel, Sandrine Benhamron, Keren Nitzan, Sahar Sweetat, Anna Permyakova, Anat Mordechai, Hasan Orhan Akman, Hanna Rosenmann, Alexander Lossos, Joseph Tam, Berge A. Minassian, Miguel Weil   +21 more
doaj   +1 more source

G6PC mRNA Therapy Positively Regulates Fasting Blood Glucose and Decreases Liver Abnormalities in a Mouse Model of Glycogen Storage Disease 1a

Molecular Therapy, 2018
Glycogen storage disease type Ia (GSD1a) is an inherited metabolic disorder caused by the deficiency of glucose-6-phosphatase (G6Pase). GSD1a is associated with life-threatening hypoglycemia and long-term liver and renal complications.
Daniel Roseman, Tayeba Khan, F. Rajas, Lucy S. Jun, Kirtika H. Asrani, C. Isaacs, J. Farelli, Romesh R. Subramanian   +7 more
semanticscholar   +1 more source

Dynamic Shifts in ER–Plasma Membrane Junctions Signaling Define Pro‐Metastatic N‐Glycosylation and Predict Prostate Cancer Progression

Advanced Science, EarlyView.
Prostate cancer remains a leading cause of male cancer death, yet screening cannot reliably identify aggressive disease, underscoring the need for tissue biomarkers. It is shown that primary tumors increase ER–plasma membrane junction signaling via STIM1/ORP5, whereas metastasis features their loss, Golgi dispersal, and rapid conversion of high‐mannose
Amanda J. Macke, Tania Kamal, Taylor E. Divita, Artem N. Pachikov, Chad A. LaGrange, Rajesh Ravichandran, Martha Morton, Robert Powers, Haowen Qiu, Jean‐Jack M. Riethoven, Colm Morrissey, Melinda Wojtkiewicz, Rebekah L. Gundry, Carol A. Casey, Armen Petrosyan   +14 more
wiley   +1 more source

Downregulation of SIRT1 signaling underlies hepatic autophagy impairment in glycogen storage disease type Ia

PLoS Genetics, 2017
A deficiency in glucose-6-phosphatase-α (G6Pase-α) in glycogen storage disease type Ia (GSD-Ia) leads to impaired glucose homeostasis and metabolic manifestations including hepatomegaly caused by increased glycogen and neutral fat accumulation.
Jun-Ho Cho, Goo-Young Kim, C. Pan, J. Anduaga, E. Choi, B. Mansfield, J. Chou   +6 more
semanticscholar   +1 more source

Hyperlipidemia Aggravates Alveolar Bone Loss via Periodontal Ligament Stem Cell Ferroptosis Through GSK3β Dependent Ubiquitin‐Mediated NRF2 Degradation

Advanced Science, EarlyView.
Lipid metabolic stress triggers ferroptosis in PDLSCs through the GSK3β/NRF2 pathway, thereby aggravating periodontal bone loss. Upregulated GSK3β promotes NRF2 ubiquitination and proteasomal degradation via β‐TrCP, suppressing NRF2 nuclear translocation and antioxidant target expression.
Yuxiao Zhang, Xiangyao Wang, Yaxin Wu, Liping Liu, Gaoshaer Nuerlan, Ahsawle Ozathaley, Xiaorui Zhang, Jinping Wang, Bowen Yang, Jing Mao, Yan Liu, Shiqiang Gong   +11 more
wiley   +1 more source

Mutation analysis of in a patient with glycogen storage disease-type Ib

Journal of International Medical Research, 2019
Objective The aim of the study was to investigate the relationship between SLC37A4 gene mutation and clinical phenotype in a patient with glycogen storage disease-type I.
Yamei Zhang, Huihui Sun, Naijun Wan
doaj   +1 more source