(Q33193898)

23 July 2017

1 reference

title

Huntington's disease: a synaptopathy? (English)

1 reference

23 July 2017

0 references

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

21 March 2024

3

Patrik Brundin

1 reference

23 July 2017

1

Jia-Yi Li

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14557053

21 March 2024

author name string

Markus Plomann

2

1 reference

23 July 2017

Patrik Brundin

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14557053

21 March 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14557053

21 March 2024

publication date

1 October 2003

1 reference

full work available at URL

23 July 2017

https://api.elsevier.com/content/article/PII:S1471491403001874?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

https://api.elsevier.com/content/article/PII:S1471491403001874?httpAccept=text/plain

21 March 2024

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Trends in Molecular Medicine

21 March 2024

published in

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23 July 2017

volume

9

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23 July 2017

issue

10

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23 July 2017

page(s)

414-420

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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

23 July 2017

cites work

1

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21 March 2024

Huntington disease.

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An autopsy case with clinically and molecular genetically diagnosed Huntington's disease with only minimal non-specific neuropathological findings

21 March 2024

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Impaired synaptic plasticity and learning in aged amyloid precursor protein transgenic mice.

21 March 2024

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Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons

21 March 2024

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Wild-type and mutant huntingtins function in vesicle trafficking in the secretory and endocytic pathways

21 March 2024

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Requirement of an intact microtubule cytoskeleton for aggregation and inclusion body formation by a mutant huntingtin fragment.

21 March 2024

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Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles

21 March 2024

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Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes

21 March 2024

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Self-assembly of polyglutamine-containing huntingtin fragments into amyloid-like fibrils: implications for Huntington's disease pathology

21 March 2024

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Accumulation of mutant huntingtin fragments in aggresome-like inclusion bodies as a result of insufficient protein degradation

21 March 2024

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Impairment of the ubiquitin-proteasome system by protein aggregation

21 March 2024

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Huntingtin expression stimulates endosomal-lysosomal activity, endosome tubulation, and autophagy.

21 March 2024

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Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain

21 March 2024

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Early degenerative changes in transgenic mice expressing mutant huntingtin involve dendritic abnormalities but no impairment of mitochondrial energy production

21 March 2024

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Progressive striatal and cortical dopamine receptor dysfunction in Huntington's disease: a PET study.

21 March 2024

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Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice

21 March 2024

19

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The corticostriatal projection: from synaptic plasticity to dysfunctions of the basal ganglia

21 March 2024

20

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Replication of the neurochemical characteristics of Huntington's disease by quinolinic acid

21 March 2024

21

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Increased sensitivity to N-methyl-D-aspartate receptor-mediated excitotoxicity in a mouse model of Huntington's disease

21 March 2024

22

1 reference

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Altered striatal amino acid neurotransmitter release monitored using microdialysis in R6/1 Huntington transgenic mice

21 March 2024

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Impaired glutamate uptake in the R6 Huntington's disease transgenic mice.

21 March 2024

24

1 reference

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Amino-terminal fragments of mutant huntingtin show selective accumulation in striatal neurons and synaptic toxicity

21 March 2024

25

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https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Evidence for dysfunction of the nigrostriatal pathway in the R6/1 line of transgenic Huntington's disease mice

21 March 2024

26

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Mice transgenic for exon 1 of Huntington's disease: properties of cholinergic and dopaminergic pre-synaptic function in the striatum.

21 March 2024

27

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Abnormal synaptic plasticity and impaired spatial cognition in mice transgenic for exon 1 of the human Huntington's disease mutation.

21 March 2024

28

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Impaired synaptic plasticity in mice carrying the Huntington's disease mutation

21 March 2024

29

1 reference

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Progressive depletion of complexin II in a transgenic mouse model of Huntington's disease

21 March 2024

30

1 reference

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Abnormalities in the synaptic vesicle fusion machinery in Huntington's disease.

21 March 2024

31

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Abnormal phosphorylation of synapsin I predicts a neuronal transmission impairment in the R6/2 Huntington's disease transgenic mice

21 March 2024

32

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

PACSIN 1 interacts with huntingtin and is absent from synaptic varicosities in presymptomatic Huntington's disease brains

21 March 2024

33

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

The synaptic vesicle cycle revisited

21 March 2024

34

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https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Temporal and spatial coordination of exocytosis and endocytosis.

21 March 2024

35

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https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Expression of mutant huntingtin blocks exocytosis in PC12 cells by depletion of complexin II

21 March 2024

36

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Disruption of the endocytic protein HIP1 results in neurological deficits and decreased AMPA receptor trafficking

21 March 2024

37

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Endophilin mutations block clathrin-mediated endocytosis but not neurotransmitter release

21 March 2024

38

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Essential role of endophilin A in synaptic vesicle budding at the Drosophila neuromuscular junction

21 March 2024

39

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Reduced hippocampal LTP in mice lacking a presynaptic protein: complexin II.

21 March 2024

40

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Complexins regulate a late step in Ca2+-dependent neurotransmitter release

21 March 2024

41

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Dysregulation of gene expression in the R6/2 model of polyglutamine disease: parallel changes in muscle and brain

21 March 2024

42

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Early transcriptional profiles in huntingtin-inducible striatal cells by microarray analyses

21 March 2024

43

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Transcriptional dysregulation in Huntington's disease

21 March 2024

44

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription

21 March 2024

45

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Interference by huntingtin and atrophin-1 with cbp-mediated transcription leading to cellular toxicity

21 March 2024

46

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Control of gene expression by proteolysis

21 March 2024

47

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Syntaxin and 25-kDa synaptosomal-associated protein: differential effects of botulinum neurotoxins C1 and A on neuronal survival

21 March 2024

48

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis

21 March 2024

49

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Expanded CAG repeats in exon 1 of the Huntington's disease gene stimulate dopamine-mediated striatal neuron autophagy and degeneration

21 March 2024

50

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Sp1 and TAFII130 transcriptional activity disrupted in early Huntington's disease

21 March 2024

51

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Altered brain neurotransmitter receptors in transgenic mice expressing a portion of an abnormal human huntington disease gene

21 March 2024

52

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Selective loss of [3H]kainic acid and [3H]AMPA binding in layer VI of frontal cortex in Huntington's disease

21 March 2024

53

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

NMDA receptor function in mouse models of Huntington disease

21 March 2024

54

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Resistance to NMDA toxicity correlates with appearance of nuclear inclusions, behavioural deficits and changes in calcium homeostasis in mice transgenic for exon 1 of the huntington gene

21 March 2024

55

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Polyglutamine-expanded huntingtin promotes sensitization of N-methyl-D-aspartate receptors via post-synaptic density 95.

21 March 2024

56

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Characterization of Endophilin B1b, a brain-specific membrane-associated lysophosphatidic acid acyl transferase with properties distinct from endophilin A1

21 March 2024

57

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Syndapins integrate N-WASP in receptor-mediated endocytosis.

21 March 2024

58

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Identification of the endophilins (SH3p4/p8/p13) as novel binding partners for the beta1-adrenergic receptor

21 March 2024

59

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Severe deficiencies in dopamine signaling in presymptomatic Huntington's disease mice

21 March 2024

60

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

The neurobiology of slow synaptic transmission

21 March 2024

61

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin

21 March 2024

62

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Huntingtin is present in the nucleus, interacts with the transcriptional corepressor C-terminal binding protein, and represses transcription

21 March 2024

63

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Huntingtin interacts with a family of WW domain proteins

21 March 2024

64

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription

21 March 2024

65

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Polyglutamine expansions cause decreased CRE-mediated transcription and early gene expression changes prior to cell death in an inducible cell model of Huntington's disease

21 March 2024

66

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Interaction of Huntington disease protein with transcriptional activator Sp1

21 March 2024

67

1 reference

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The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis

21 March 2024

68

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Cdc42-interacting protein 4 binds to huntingtin: neuropathologic and biological evidence for a role in Huntington's disease

21 March 2024

69

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

The predominantly HEAT-like motif structure of huntingtin and its association and coincident nuclear entry with dorsal, an NF-kB/Rel/dorsal family transcription factor

21 March 2024

70

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

A huntingtin-associated protein enriched in brain with implications for pathology

21 March 2024

71

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

HIP-I: a huntingtin interacting protein isolated by the yeast two-hybrid system

21 March 2024

72

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain

21 March 2024

73

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

HIP1 and HIP12 display differential binding to F-actin, AP2, and clathrin. Identification of a novel interaction with clathrin light chain

21 March 2024

74

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

An actin-binding protein of the Sla2/Huntingtin interacting protein 1 family is a novel component of clathrin-coated pits and vesicles

21 March 2024

75

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi

21 March 2024

76

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

SH3GL3 associates with the Huntingtin exon 1 protein and promotes the formation of polygln-containing protein aggregates

21 March 2024

78

1 reference

https://api.crossref.org/works/10.1016/J.MOLMED.2003.08.006

Abnormal association of mutant huntingtin with synaptic vesicles inhibits glutamate release

21 March 2024

79

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21 March 2024

Identifiers

1 reference

23 July 2017

1 reference