Results 171 to 180 of about 113,624 (330)

Mitochondrial dysfunction: Related diseases, influencing factors, and detection

Interdisciplinary Medicine, EarlyView.
Mitochondrial dysfunction is implicated in the pathogenesis of numerous diseases, including neurological disorders, cancers, and cardiovascular conditions, through mechanisms such as mitochondrial DNA mutations, dysregulation of mitochondrial network dynamics, and impaired mitophagy.
Zhaojin Li, Shiyu Li, Wanying Chen, Ziyu Zhang, Chun Pan, Peng Lei, Cheng Cheng, Junyou Zhu, Hanxiao Sun, Zhenning Dai   +9 more
wiley   +1 more source

Animal models of spinal muscular atrophy [PDF]

, 2000
Umrao R. Monani
openalex   +1 more source

Rehabilitation management for patients with spinal muscular atrophy: a review. [PDF]

Orphanet J Rare Dis
Song W, Ke X.
europepmc   +1 more source

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, EarlyView.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

Specific Sequences of the Sm and Sm-like (Lsm) Proteins Mediate Their Interaction with the Spinal Muscular Atrophy Disease Gene Product (SMN) [PDF]

, 2000
Westley J. Friesen, Gideon Dreyfuss
openalex   +1 more source

Recent Utilization of Pediatric Extrapolation and Modeling and Simulation Approaches in Pediatric Drug Development in Japan

The Journal of Clinical Pharmacology, EarlyView.
Abstract In Japan, the percentage of approved drugs with pediatric indications increased to 30% in 2010‐2015, but no further increase was observed through 2020. The Ministry of Health, Labor, and Welfare in Japan presented draft future directions to promote pediatric drug development, where the modeling and simulation (M&S) approach was introduced as a
Akinori Nakashima, Akihide Tsujimoto, Masako Saito, Jun Takeda, Makiko Natori, Satoshi Shoji   +5 more
wiley   +1 more source

Successful pregnancies in the presence of spinal muscular atrophy: Two case reports

, 1994
Gregory T. Carter, H. William Bonekat, Lorraine Milio   +2 more
openalex   +1 more source

The Schizosaccharomyces pombe protein Yab8p and a novel factor, Yip1p, share structural and functional similarity with the spinal muscular atrophy-associated proteins SMN and SIP1 [PDF]

, 2000
Stefan Hannus
openalex   +1 more source

MR‐Guidance of Gene Therapy for Brain Diseases: Moving From Palliative Treatment to Cures

Journal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT Regulatory bodies in the U.S. and Europe recently approved a gene therapy for aromatic L‐amino acid decarboxylase (AADC) deficiency, a rare neurologic disorder where a genetic mutation prevents dopamine production in the brain. Affected children fail to develop normal motor and cognitive functions.
Dalton H. Bermudez, Thomas Lilieholm, Walter F. Block   +2 more
wiley   +1 more source

Epigenetic regulation in spinal muscular atrophy: emerging areas and future directions. [PDF]

Orphanet J Rare Dis
Li H, Yu B, Yuan Y, Chen N, Wu J, Zhang Z.   +5 more
europepmc   +1 more source