Results 81 to 90 of about 56,617 (329)

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

open access: yesAdvanced 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   +25 more
wiley   +1 more source

The infantile-onset form of Pompe disease: an autopsy diagnosis

open access: yesAutopsy and Case Reports, 2015
Pompe disease (PD) is a rare, inherited autosomal recessive metabolic disorder caused by the deficiency of the lysosomal acid alpha-glucosidase (GAA) enzyme described in 1932 by the Dutch pathologist Joannes Cassianus Pompe.
Otávio César Cruz dos Santos
doaj   +1 more source

Glycogen storage disease in a young cat with heart failure

open access: yesJournal of Veterinary Internal Medicine, 2022
An 8‐month‐old domestic short‐haired female cat presented with acute tachypnea, poor growth, hypothermia, and lethargy. Thoracic radiography showed cardiomegaly with mild pleural effusion, and transthoracic echocardiography identified dilatation of both ...
Shigeki Tanaka   +5 more
doaj   +1 more source

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

open access: yesAdvanced 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   +14 more
wiley   +1 more source

Liver transplantation for type I and type IV glycogen storage disease [PDF]

open access: yes, 1993
Progressive liver failure or hepatic complications of the primary disease led to orthotopic liver transplantation in eight children with glycogen storage disease over a 9-year period.
A. G. Tzakis   +37 more
core   +1 more source

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

open access: yesAdvanced 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   +11 more
wiley   +1 more source

Programming Skeletal Muscle Metabolic Flexibility in Offspring of Male Rats in Response to Maternal Consumption of Slow Digesting Carbohydrates during Pregnancy [PDF]

open access: yes, 2020
Skeletal muscle plays a relevant role in metabolic flexibility and fuel usage and the associated muscle metabolic inflexibility due to high-fat diets contributing to obesity and type 2 diabetes.
Andújar, Eloísa   +7 more
core   +1 more source

Aptamer‐Directed Porous DNA Nanocomposite Hydrogel for Active Pulp Preservation: Immunomodulation, Stem Cell Recruitment and Reparative Dentinogenesis

open access: yesAdvanced Science, EarlyView.
This study presents an injectable DNA‐based porous hydrogel integrating catechol motifs and targeting aptamers for pulpitis management. Upon in situ crosslinking, the scaffold actively recruits endogenous dental pulp stem cells, restores redox homeostasis, and modulates immune responses.
Luhui Cai   +9 more
wiley   +1 more source

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

open access: yesCase 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   +2 more
doaj   +1 more source

Cell migration and chimerism after whole‐organ transplantation: The basis of graft acceptance [PDF]

open access: yes, 1993
Improvements in the prevention or control of rejection of the kidney and liver have been largely interchangeable ( 1 , 2 ) and then applicable, with very little modification, to thoracic and other organs.
Demetris, AJ   +13 more
core   +1 more source

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