Results 271 to 280 of about 156,351 (339)

Systematic Review of Genetic Substrate Reduction Therapy in Lysosomal Storage Diseases: Opportunities, Challenges and Delivery Systems. [PDF]

BioDrugs
Beraza-Millor M, Rodríguez-Castejón J, Del Pozo-Rodríguez A, Rodríguez-Gascón A, Solinís MÁ.   +4 more
europepmc   +1 more source

Prevalence of Lysosomal Storage Diseases in Malaysia

, 2018
Affandi Omar, Norashareena Mohd Shakrin, Nor Azimah Abdul Aziz, Siti Aishah Abdul Wahab, Lua Seok Hian, Yusnita Yaakob, Julaina Abdul Jalil   +6 more
openalex   +1 more source

[Lysosomes and lysosomal storage diseases].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1975
K K, Lie, S O, Lie
openaire   +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

Pathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathway [version 1; referees: 2 approved, 2 approved with reservations] [PDF]

, 2016
et al,, Ory, Daniel S
core   +1 more source

A two‐sample Mendelian randomization study and mediation analysis exploring the link between cathepsins and epilepsy

Epilepsia Open, EarlyView.
Abstract Objective This study aims to investigate the causal relationship between cathepsins and epilepsy, using Mendelian randomization (MR) and mediation analysis. Methods Publicly accessible summary statistics on epilepsy were obtained from FinnGen and the International League Against Epilepsy Consortium.
Huaiyu Sun, Di Ma, Wuqiong Zhang, Shuai Hou, Zhiqing Chen, Xuewei Li, Hongmei Meng, Daguang Zhang   +7 more
wiley   +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

Advances in Double‐Stranded DNA Targeting Technologies

Exploration, EarlyView.
Double‐stranded DNA (dsDNA) plays a crucial role in genetic information storage and disease management, but its inherent stability limits access to internal bases. To overcome this challenge, various high‐specificity molecular targeting technologies have been developed to destabilize the DNA structure.
Zuhao Shen, Yiqun Liu, Yingjie Hao, Yifan Bo, Xiaochuan Dai, Shihui Wang, Tian Xia, Xin Su, Huiyu Liu   +8 more
wiley   +1 more source

Advanced extracellular vesicle immunotherapy

FlexMat, EarlyView.
A diagrammatic depiction of the therapeutic applicability of extracellular vesicles (EVs) in immunotherapy. This review explores the dual roles of tumor‐derived and immune cell‐derived EVs in cancer immunotherapy, discusses recent progress in EV engineering that improve their clinical utility, and evaluates their potential to augment existing ...
Jingjing Zhang, Yunfei Mu, Xianyue Ji, Xiaoting Jiang, Ruiheng Wang, Xianguang Ding, Lianhui Wang   +6 more
wiley   +1 more source

Endometrial Stromal Cell Senescence: A Non‐Negligible Factor in Recurrent Pregnancy Loss

iMetaMed, EarlyView.
As populations age, links between female reproductive aging and infertility are increasingly evident. Cellular senescence, characterized by near‐irreversible cell‐cycle arrest and accumulation of damage, can impair tissue function. In the endometrium, aberrant senescence of endometrial stromal cells (EnSCs) may compromise receptivity, hinder embryo ...
Shuang Wu, Cenlan Bu, Qinzheng Xu, Xi Cheng, Junrong Zhang, Jinling Chen, Yun‐Zhao Xu   +6 more
wiley   +1 more source