Results 141 to 150 of about 5,553,804 (280)

Prenatal Characterization of Houge–Janssens Syndrome Type 2: A Case Report and Systematic Review of Fetal Phenotypes Associated With PPP2R1A Mutations

Molecular Genetics &Genomic Medicine, Volume 13, Issue 8, August 2025.
We present the most comprehensive synthesis to date of prenatal phenotypes associated with PPP2R1A‐related neurodevelopmental disorders. Ventriculomegaly, callosal anomalies, and heart defects are key prenatal indicators, supporting early diagnosis and informed genetic counseling.
Jiancheng Hu, Jialun Pang, Lin Zhou, Haiyan Kuang, Wenxian Yu, Ying Peng   +5 more
wiley   +1 more source

In vivo evidence for NMDA receptor mediated excitotoxicity in a murine genetic model of Huntington Disease [PDF]

, 2008
N-methyl-D-aspartate receptor (NMDAR) mediated excitotoxicity is implicated as a proximate cause of neurodegeneration in Huntington Disease (HD). However, this hypothesis has not been tested rigorously in vivo. NMDAR NR2B-subunits are the predominant NR2
Joe Tsien, Mary Heng, Peter Detloff, Phillip Wang, Roger Albin   +4 more
core   +1 more source

Preventing formation of toxic N-terminal huntingtin fragments through antisense oligonucleotide-mediated protein modification.

Nucleic Acid Therapeutics, 2014
Huntington's disease (HD) is a progressive autosomal dominant disorder, caused by a CAG repeat expansion in the HTT gene, which results in expansion of a polyglutamine stretch at the N-terminal end of the huntingtin protein.
M. Evers, Hoang-Dai Tran, I. Zalachoras, O. Meijer, J. D. den Dunnen, G. van Ommen, A. Aartsma-Rus, W. V. van Roon-Mom   +7 more
semanticscholar   +1 more source

Proteostasis in striatal cells and selective neurodegeneration in Huntington’s disease

Frontiers in Cellular Neuroscience, 2014
Selective neuronal loss is a hallmark of neurodegenerative diseases, including Huntington’s disease (HD). Although mutant huntingtin, the protein responsible for Huntington’s disease, is expressed ubiquitously, a subpopulation of neurons in the striatum ...
Julia eMargulis, Julia eMargulis, Steven eFinkbeiner, Steven eFinkbeiner, Steven eFinkbeiner   +4 more
doaj   +1 more source

The Application of Polymeric Nanoparticles as Drug Delivery Carriers to Cells in Neurodegenerative Diseases

Cell Proliferation, Volume 58, Issue 8, August 2025.
Polymeric nanoparticles represent promising drug (gene) delivery carriers to the brain due to their unique advantages to facilitate the penetration of blood–brain barrier and endocytosis of neuronal cells in neurodegenerative diseases. ABSTRACT In spite of great advances in modern medicine, there are a few effective strategies for the treatment of ...
Lian Jin, Libo Nie, Yan Deng, Ghulam Jilany Khana, Nongyue He   +4 more
wiley   +1 more source

Genetically engineered mesenchymal stem cells as a proposed therapeutic for Huntington's disease. [PDF]

, 2011
There is much interest in the use of mesenchymal stem cells/marrow stromal cells (MSC) to treat neurodegenerative disorders, in particular those that are fatal and difficult to treat, such as Huntington's disease.
Annett, Geralyn, Bauer, Gerhard, Cary, Whitney, Dunbar, Gary, Kambal, Amal, Kim, Hyun Sook, McGee, Jeannine, Mitchell, Gaela-Marie, Nolta, Jan A, Olson, Scott D, Pollock, Kari, Stewart, Heather, Tempkin, Jeremy, Tempkin, Teresa, Wheelock, Vicki   +14 more
core   +3 more sources

Quantification Assays for Total and Polyglutamine-Expanded Huntingtin Proteins

PLoS ONE, 2014
The expansion of a CAG trinucleotide repeat in the huntingtin gene, which produces huntingtin protein with an expanded polyglutamine tract, is the cause of Huntington's disease (HD). Recent studies have reported that RNAi suppression of polyglutamine-expanded huntingtin (mutant HTT) in HD animal models can ameliorate disease phenotypes.
Faywell Albertus, Marieke Lamers, Kristiina Pulli, Wolfgang Reindl, Melanie A. Smith, Sipke Dijkstra, Ignacio Munoz-Sanjuan, Ivette Boogaard, Agnieszka Szynol, George McAllister, Michela Tessari, Frank Herrmann, Douglas Macdonald, David F. Fischer, Daniel Kordt   +14 more
openaire   +5 more sources

Reduction of mutant huntingtin accumulation and toxicity by lysosomal cathepsins D and B in neurons

Molecular Neurodegeneration, 2011
Background Huntington's disease is caused by aggregation of mutant huntingtin (mHtt) protein containing more than a 36 polyQ repeat. Upregulation of macroautophagy was suggested as a neuroprotective strategy to degrade mutant huntingtin.
Ouyang Xiaosen, Liang Qiuli, Schneider Lonnie, Zhang Jianhua   +3 more
doaj   +1 more source

Huntington's disease is a multi-system disorder. [PDF]

, 2015
Huntingtons disease (HD) is one of the most common non-curable rare diseases and is characterized by choreic movements, psychiatric symptoms, and slowly progressive dementia.
Mielcarek, M
core   +1 more source

SIRT1 Activity Is Linked to Its Brain Region-Specific Phosphorylation and Is Impaired in Huntington’s Disease Mice [PDF]

, 2015
Huntingtons disease (HD) is a neurodegenerative disorder for which there are no disease-modifying treatments. SIRT1 is a NAD+-dependent protein deacetylase that is implicated in maintaining neuronal health during development, differentiation and ageing ...
Bates, GP, Benjamin, AC, Carnemolla, A, Chini, EN, Jolinon, N, Smith, DL, Tulino, R   +6 more
core   +1 more source