Results 151 to 160 of about 37,603 (244)

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

Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early-Onset Lysosomal Storage Diseases. [PDF]

Am J Med Genet C Semin Med Genet
Borges B, Canepa E, Chang IJ, Herzeg A, Lianoglou B, Kishnani PS, Harmatz P, MacKenzie TC, Cohen JL.   +8 more
europepmc   +1 more source

Reproduction in Animal Models of Lysosomal Storage Diseases: A Scoping Review. [PDF]

Front Mol Biosci, 2021
Vuolo D, Do Nascimento CC, D'Almeida V.
europepmc   +1 more source

Altered gene expression in the liver and small intestine of horses with equine neuroaxonal dystrophy

Equine Veterinary Journal, EarlyView.
Abstract Background Equine neuroaxonal dystrophy/degenerative myeloencephalopathy (eNAD/EDM) is the second most common diagnosis of spinal ataxia in horses in the United States. The disease develops due to a combination of vitamin E deficiency and an unknown genetic risk factor(s), and there currently is no effective treatment.
Stephanie Ryan, Blythe Durbin‐Johnson, Kevin Woolard, Andrew D. Miller, Carrie J. Finno   +4 more
wiley   +1 more source

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

A multiplex interactome of Ebola virus proteins reveals TM9SF2 as a cell‐surface attachment factor that promotes viral entry

iMetaOmics, EarlyView.
This study generates a comprehensive Ebola virus (EBOV)‐human protein–protein interactome, comprising 1728 core high‐confidence interactions. Further interactome analysis revealed the potential association of EBOV glycoprotein (GP) with the host factor TM9SF2. Subsequent mechanistic investigations confirmed that TM9SF2 functions as an attachment factor
Limin Shang, Shouwen Du, Yuchen Liu, Letian Li, Xi Wu, Yanzhi Yuan, Chaozhi Jin, Qingkun Mi, Yuhang Wang, Xiaoshuang Shi, Jiamin Wang, Guoqing Zhang, Yidan Ma, Weijin Huang, Jigang Wang, Jian Wang, Chang Li   +16 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

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