Cited by 166Genetic Neurodegenerative DiseasesNeuroscience and Neuropharmacology ResearchGenetics and Neurodevelopmental Disorders

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Synaptic dysfunction in Huntington's disease: a new perspective

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Smith, R., Brundin, P., Li, J.-Y.·2005·Cellular and Molecular Life Sciences

DOI 10.1007/s00018-005-5084-5PMC PMC11139070

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Abstract

Huntington's disease (HD) is caused by a polyglutamine expansion in the protein huntingtin and is characterized by intraneuronal inclusions and widespread neuronal death at the late stage of the disease. In research, most of the emphasis has been on understanding the cell death and its mechanisms. Until recently, it was believed that the vast majority, if not all, of the symptoms in HD are a direct consequence of neurodegeneration. However, increasing evidence shows that subtle alterations in synaptic function could underlie the early symptoms. It is of particular interest to understand the nature of this neuronal dysfunction. Normal huntingtin interacts with various cytoskeletal and synaptic vesicle proteins that are essential for exocytosis and endocytosis. Altered interactions of mutant huntingtin with its associated partners could contribute to abnormal synaptic transmission in HD. This review describes recent advances in understanding synaptic dysfunction in HD.

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Authors: Smith, R., Brundin, P., & Li, J.-Y.
Affiliations: Lund University (SE)
Corresponding author: Li, J.-Y.
ORCID: Smith, R.
Brundin, P.
Li, J.-Y.
Venue: Cellular and Molecular Life Sciences
Publisher: Springer Science and Business Media LLC
Published: 2005-06-15
Volume: 62
Issue: 17
Pages: 1901-1912
ISSN: 1420-682X (ISSN-L)
1420-9071
DOI: 10.1007/s00018-005-5084-5
PMC: PMC11139070
OpenAlex: W2132164151
Cited by: 166
References: 132
Citations by year: 2026: 2 · 2025: 3 · 2023: 4 · 2022: 5 · 2021: 7 · 2020: 8 · 2019: 4 · 2018: 10 · 2017: 8 · 2016: 10 · 2015: 4 · 2014: 10 · 2013: 10 · 2012: 12
FWCI: 3.87
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
Locations: Cellular and Molecular Life Sciences (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Lund University Publications (Lund University) (submittedVersion)
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: Huntington's disease, synaptic dysfunction, huntingtin, polyglutamine expansion, mutant huntingtin, synaptic vesicle proteins, exocytosis, endocytosis, synaptic transmission, neurodegeneration, neuronal dysfunction
MeSH terms: Huntingtin Protein, Animals, Brain, Exocytosis, Humans, Huntington Disease, Mutation, Nerve Tissue Proteins, Synaptic Transmission, Nuclear Proteins, Synapses, Transcription, Genetic, Models, Animal

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Synaptic dysfunction in Huntington's disease: a new perspective

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