Results 181 to 190 of about 9,130,139 (414)

Testicular degeneration in Huntington disease

Neurobiology of Disease, 2007
Huntington disease (HD) is an adult onset, neurodegenerative disorder that results from CAG expansion in the HD gene. Recent work has demonstrated testicular degeneration in mouse models of HD and alterations in the hypothalamic–pituitary–gonadal (HPG ...
Jeremy M. Van Raamsdonk, Zoe Murphy, David M. Selva, Reza Hamidizadeh, Jacqueline Pearson, Ǻsa Petersén, Maria Björkqvist, Cameron Muir, Ian R. Mackenzie, Geoffrey L. Hammond, A. Wayne Vogl, Michael R. Hayden, Blair R. Leavitt   +12 more
doaj  

Detecting Daily Living Gait Amid Huntington's Disease Chorea using a Foundation Deep Learning Model [PDF]

arXiv
Wearable sensors offer a non-invasive way to collect physical activity (PA) data, with walking as a key component. Existing models often struggle to detect gait bouts in individuals with neurodegenerative diseases (NDDs) involving involuntary movements.
arxiv  

Early and Progressive Accumulation of Reactive Microglia in the Huntington Disease Brain [PDF]

, 2001
Ellen Sapp, Kimberly B. Kegel, Neil Aronin, Tsutomu Hashikawa, Yasuo Uchiyama, Koujiro Tohyama, Pradeep G. Bhide, J.-P. G. Vonsattel, Marian DiFiglia   +8 more
openalex   +1 more source

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

Measurement of Mutational Flow Implies Both a High New-Mutation Rate for Huntington Disease and Substantial Underascertainment of Late-Onset Cases [PDF]

, 2001
Daniel Falush, E. Almqvist, Ryan R. Brinkmann, Yoh Iwasa, Michael R. Hayden   +4 more
openalex   +1 more source

Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease

Nature Genetics, 2004
B. Ravikumar, C. Vacher, Z. Berger, J. Davies, S. Luo, L. Oroz, F. Scaravilli, D. Easton, R. Duden, C. O’Kane, D. Rubinsztein   +10 more
semanticscholar   +1 more source

Advances in the Role of Antimicrobial Peptides in the Management of Sexually Transmitted Infections

Journal of Clinical Laboratory Analysis, EarlyView.
The article reviews recent advancements in the use of antimicrobial peptides (AMPs) for the treatment and prevention of sexually transmitted infections (STIs), with a particular focus on research progress in combating infections such as gonorrhea, HIV, HSV, and Chlamydia, as well as the challenges and future directions in this field.
Shuangwen Xiao, Wei Zuo, Qing Xiang, Yafeng Xie, Yongjian Xiao   +4 more
wiley   +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

Explainable AI model reveals disease-related mechanisms in single-cell RNA-seq data [PDF]

arXiv
Neurodegenerative diseases (NDDs) are complex and lack effective treatment due to their poorly understood mechanism. The increasingly used data analysis from Single nucleus RNA Sequencing (snRNA-seq) allows to explore transcriptomic events at a single cell level, yet face challenges in interpreting the mechanisms underlying a disease. On the other hand,
arxiv  

Erratum: Prolonged survival and decreased abnormal movements in transgenic model of Huntington disease, with administration of the transglutaminase inhibitor cystamine [PDF]

, 2002
Sidney Altman, Marcela V. Karpuj, Mark W. Bêcher, Joe E. Springer, Dorothée Chabas, Rosetta Pedotti, Sawsan Youssef, Dennis J. Mitchell, Lawrence Steinman, S Strowski, Stéphane L. Benoit, G Conarello, X.-M Salituro, Kun‐Liang Guan, S Liu, Beth Woods, Kelle H. Moley, Yutian Chi, C. Michael Knudson, S J Korsmeyer, Mike Mueckler   +20 more
openalex   +1 more source