RGD Reference Report - Impaired intracellular trafficking defines early Parkinson's disease. - Rat Genome Database

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Impaired intracellular trafficking defines early Parkinson's disease.

Authors: Hunn, BH  Cragg, SJ  Bolam, JP  Spillantini, MG  Wade-Martins, R 
Citation: Hunn BH, etal., Trends Neurosci. 2015 Mar;38(3):178-88. doi: 10.1016/j.tins.2014.12.009. Epub 2015 Jan 29.
RGD ID: 10450521
Pubmed: PMID:25639775   (View Abstract at PubMed)
PMCID: PMC4740565   (View Article at PubMed Central)
DOI: DOI:10.1016/j.tins.2014.12.009   (Journal Full-text)

Parkinson's disease (PD) is an insidious and incurable neurodegenerative disease, and represents a significant cost to individuals, carers, and ageing societies. It is defined at post-mortem by the loss of dopamine neurons in the substantia nigra together with the presence of Lewy bodies and Lewy neurites. We examine here the role of alpha-synuclein and other cellular transport proteins implicated in PD and how their aberrant activity may be compounded by the unique anatomy of the dopaminergic neuron. This review uses multiple lines of evidence from genetic studies, human tissue, induced pluripotent stem cells, and refined animal models to argue that prodromal PD can be defined as a disease of impaired intracellular trafficking. Dysfunction of the dopaminergic synapse heralds trafficking impairment.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  

Molecular Pathway Annotations    Click to see Annotation Detail View

RGD Manual Annotations


  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
DNAJC6HumanParkinson's disease pathway   TAS  RGD 
Dnajc6MouseParkinson's disease pathway   ISODNAJC6 (Homo sapiens) RGD 
Dnajc6RatParkinson's disease pathway   ISODNAJC6 (Homo sapiens) RGD 
GBA1HumanParkinson's disease pathway   TAS  RGD 
Gba1MouseParkinson's disease pathway   ISOGBA1 (Homo sapiens) RGD 
Gba1RatParkinson's disease pathway   ISOGBA1 (Homo sapiens) RGD 
LRRK2HumanParkinson's disease pathway   TAS  RGD 
Lrrk2RatParkinson's disease pathway   ISOLRRK2 (Homo sapiens) RGD 
Lrrk2MouseParkinson's disease pathway   ISOLRRK2 (Homo sapiens) RGD 
PINK1HumanParkinson's disease pathway   TAS  RGD 
PRKNHumanParkinson's disease pathway   TAS  RGD 
Pink1MouseParkinson's disease pathway   ISOPINK1 (Homo sapiens) RGD 
Pink1RatParkinson's disease pathway   ISOPINK1 (Homo sapiens) RGD 
PrknMouseParkinson's disease pathway   ISOPRKN (Homo sapiens) RGD 
PrknRatParkinson's disease pathway   ISOPRKN (Homo sapiens) RGD 
SNCAHumanParkinson's disease pathway   TAS  RGD 
SYNJ1HumanParkinson's disease pathway   TAS  RGD 
SncaMouseParkinson's disease pathway   ISOSNCA (Homo sapiens) RGD 
SncaRatParkinson's disease pathway   ISOSNCA (Homo sapiens) RGD 
Synj1MouseParkinson's disease pathway   ISOSYNJ1 (Homo sapiens) RGD 
Synj1RatParkinson's disease pathway   ISOSYNJ1 (Homo sapiens) RGD 
VPS35HumanParkinson's disease pathway   TAS  RGD 
Vps35MouseParkinson's disease pathway   ISOVPS35 (Homo sapiens) RGD 
Vps35RatParkinson's disease pathway   ISOVPS35 (Homo sapiens) RGD 
Objects Annotated

Genes (Rattus norvegicus)
Dnajc6  (DnaJ heat shock protein family (Hsp40) member C6)
Gba1  (glucosylceramidase beta 1)
Lrrk2  (leucine-rich repeat kinase 2)
Pink1  (PTEN induced kinase 1)
Prkn  (parkin RBR E3 ubiquitin protein ligase)
Snca  (synuclein alpha)
Synj1  (synaptojanin 1)
Vps35  (VPS35 retromer complex component)

Genes (Mus musculus)
Dnajc6  (DnaJ heat shock protein family (Hsp40) member C6)
Gba1  (glucosylceramidase beta 1)
Lrrk2  (leucine-rich repeat kinase 2)
Pink1  (PTEN induced putative kinase 1)
Prkn  (parkin RBR E3 ubiquitin protein ligase)
Snca  (synuclein, alpha)
Synj1  (synaptojanin 1)
Vps35  (VPS35 retromer complex component)

Genes (Homo sapiens)
DNAJC6  (DnaJ heat shock protein family (Hsp40) member C6)
GBA1  (glucosylceramidase beta 1)
LRRK2  (leucine rich repeat kinase 2)
PINK1  (PTEN induced kinase 1)
PRKN  (parkin RBR E3 ubiquitin protein ligase)
SNCA  (synuclein alpha)
SYNJ1  (synaptojanin 1)
VPS35  (VPS35 retromer complex component)


Additional Information