Results 191 to 200 of about 72,104 (287)

Treatment Beliefs Reflect Unmet Clinical Needs in Lysosomal Storage Diseases: An Opportunity for a Patient-Centered Approach. [PDF]

JIMD Rep
Corazolla EM, Langeveld M, Brands MMMG, Sjouke B, Hollak CEM.   +4 more
europepmc   +1 more source

Targeting the central nervous system in lysosomal storage diseases: Strategies to deliver therapeutics across the blood-brain barrier. [PDF]

Mol Ther, 2023
Critchley BJ, Gaspar HB, Benedetti S.
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Lysosomal storage diseases in North America: a comprehensive review of enzyme therapies and unmet needs. [PDF]

Ther Adv Rare Dis
Bennett LL.
europepmc   +1 more source

The Role of the miR-17-92 Cluster in Autophagy and Atherosclerosis Supports Its Link to Lysosomal Storage Diseases. [PDF]

Cells, 2022
Ortuño-Sahagún D, Enterría-Rosales J, Izquierdo V, Griñán-Ferré C, Pallàs M, González-Castillo C.   +5 more
europepmc   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

c-Abl/TFEB Pathway Activation as a Common Pathogenic Mechanism in Lysosomal Storage Diseases: Therapeutic Potential of c-Abl Inhibitors. [PDF]

Antioxidants (Basel)
Guerra MV, Castro J, Moreno A, Balboa E, Marugan JJ, Alvarez AR, Zanlungo S.   +6 more
europepmc   +1 more source

Preclinical studies in Krabbe disease: A model for the investigation of novel combination therapies for lysosomal storage diseases. [PDF]

Mol Ther, 2023
Heller G, Bradbury AM, Sands MS, Bongarzone ER.   +3 more
europepmc   +1 more source

FAM107A loss facilitates TTK‐OPTN‐mediated mitophagy to drive docetaxel resistance in castration‐resistant prostate cancer

Interdisciplinary Medicine, EarlyView.
In the progression of docetaxel resistance, downregulation of FAM107A releases its transcriptional repression of TTK, leading to TTK upregulation. TTK enhances the interaction and phosphorylation of OPTN. This activates mitophagy in tumor cells, facilitates clearance of damaged mitochondria, reduces intracellular reactive oxygen species accumulation ...
Yishan Zhang, Fan Zou, Mingdong Wang, Chenyue Wu, Yingwei Xie, Yongjun Quan, Wei Yan, Yupeng Zheng, Lianhua Li, Yuexin Liu, Jian Yu, Hao Ping   +11 more
wiley   +1 more source

Reply—Nonimmune Hydrops Fetalis and Lysosomal Storage Diseases

Pediatrics and Neonatology, 2013
Ozge Surmeli-Onay, Ayse Korkmaz
doaj   +1 more source