| Type |
Details |
Score |
| Publication |
| First Author: |
Chenery AL |
| Year: |
2021 |
| Journal: |
Life Sci Alliance |
| Title: |
IL-13 deficiency exacerbates lung damage and impairs epithelial-derived type 2 molecules during nematode infection. |
| Volume: |
4 |
| Issue: |
8 |
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Nkansah E |
| Year: |
2013 |
| Journal: |
FEBS Lett |
| Title: |
Observation of unphosphorylated STAT3 core protein binding to target dsDNA by PEMSA and X-ray crystallography. |
| Volume: |
587 |
| Issue: |
7 |
| Pages: |
833-9 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kibbe WA |
| Year: |
2015 |
| Journal: |
Nucleic Acids Res |
| Title: |
Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data. |
| Volume: |
43 |
| Issue: |
Database issue |
| Pages: |
D1071-8 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Conte N |
| Year: |
2019 |
| Journal: |
Nucleic Acids Res |
| Title: |
PDX Finder: A portal for patient-derived tumor xenograft model discovery. |
| Volume: |
47 |
| Issue: |
D1 |
| Pages: |
D1073-D1079 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Behere A |
| Year: |
2021 |
| Journal: |
J Neurosci Res |
| Title: |
Visualization of early oligomeric α-synuclein pathology and its impact on the dopaminergic system in the (Thy-1)-h[A30P]α-syn transgenic mouse model. |
| Volume: |
99 |
| Issue: |
10 |
| Pages: |
2525-2539 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Frasier M |
| Year: |
2005 |
| Journal: |
Exp Neurol |
| Title: |
Tau phosphorylation increases in symptomatic mice overexpressing A30P alpha-synuclein. |
| Volume: |
192 |
| Issue: |
2 |
| Pages: |
274-87 |
|
•
•
•
•
•
|
| HT Experiment |
| Series Id: |
GSE74517 |
| Experiment Type: |
RNA-Seq |
| Study Type: |
WT vs. Mutant |
| Source: |
ArrayExpress |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
congenic, mutant strain, targeted mutation |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Prkn/Prkn Park7/Park7 |
| Background: |
B6.Cg-Park7 Prkn |
| Zygosity: |
cx |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Park7/Park7 Pink1/Pink1 |
| Background: |
involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6J |
| Zygosity: |
cx |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Gotoh T |
| Year: |
2004 |
| Journal: |
Cell Death Differ |
| Title: |
hsp70-DnaJ chaperone pair prevents nitric oxide- and CHOP-induced apoptosis by inhibiting translocation of Bax to mitochondria. |
| Volume: |
11 |
| Issue: |
4 |
| Pages: |
390-402 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Duplan E |
| Year: |
2013 |
| Journal: |
J Cell Sci |
| Title: |
ER-stress-associated functional link between Parkin and DJ-1 via a transcriptional cascade involving the tumor suppressor p53 and the spliced X-box binding protein XBP-1. |
| Volume: |
126 |
| Issue: |
Pt 9 |
| Pages: |
2124-33 |
|
•
•
•
•
•
|
| MP Term |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Skibinski G |
| Year: |
2005 |
| Journal: |
Nat Genet |
| Title: |
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. |
| Volume: |
37 |
| Issue: |
8 |
| Pages: |
806-8 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Bertram MJ |
| Year: |
1999 |
| Journal: |
Mol Cell Biol |
| Title: |
Identification of a gene that reverses the immortal phenotype of a subset of cells and is a member of a novel family of transcription factor-like genes. |
| Volume: |
19 |
| Issue: |
2 |
| Pages: |
1479-85 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Chen X |
| Year: |
2018 |
| Journal: |
EBioMedicine |
| Title: |
Dissociation between urate and blood pressure in mice and in people with early Parkinson's disease. |
| Volume: |
37 |
|
| Pages: |
259-268 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Shen Y |
| Year: |
2016 |
| Journal: |
Am J Pathol |
| Title: |
Granzyme B Deficiency Protects against Angiotensin II-Induced Cardiac Fibrosis. |
| Volume: |
186 |
| Issue: |
1 |
| Pages: |
87-100 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Rehman A |
| Year: |
2019 |
| Journal: |
Cell Death Dis |
| Title: |
The desmosomal cadherin desmoglein-3 acts as a keratinocyte anti-stress protein via suppression of p53. |
| Volume: |
10 |
| Issue: |
10 |
| Pages: |
750 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Woodhoo A |
| Year: |
2009 |
| Journal: |
Nat Neurosci |
| Title: |
Notch controls embryonic Schwann cell differentiation, postnatal myelination and adult plasticity. |
| Volume: |
12 |
| Issue: |
7 |
| Pages: |
839-47 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Schulz A |
| Year: |
2013 |
| Journal: |
Nat Neurosci |
| Title: |
Merlin isoform 2 in neurofibromatosis type 2-associated polyneuropathy. |
| Volume: |
16 |
| Issue: |
4 |
| Pages: |
426-33 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mindos T |
| Year: |
2017 |
| Journal: |
J Cell Biol |
| Title: |
Merlin controls the repair capacity of Schwann cells after injury by regulating Hippo/YAP activity. |
| Volume: |
216 |
| Issue: |
2 |
| Pages: |
495-510 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Burgess BL |
| Year: |
2008 |
| Journal: |
J Lipid Res |
| Title: |
ABCG1 influences the brain cholesterol biosynthetic pathway but does not affect amyloid precursor protein or apolipoprotein E metabolism in vivo. |
| Volume: |
49 |
| Issue: |
6 |
| Pages: |
1254-67 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Chenery AL |
| Year: |
2019 |
| Journal: |
J Immunol |
| Title: |
Inflammasome-Independent Role for NLRP3 in Controlling Innate Antihelminth Immunity and Tissue Repair in the Lung. |
| Volume: |
203 |
| Issue: |
10 |
| Pages: |
2724-2734 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Finlay CM |
| Year: |
2023 |
| Journal: |
Immunity |
| Title: |
T helper 2 cells control monocyte to tissue-resident macrophage differentiation during nematode infection of the pleural cavity. |
| Volume: |
56 |
| Issue: |
5 |
| Pages: |
1064-1081.e10 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Ghazi-Noori S |
| Year: |
2012 |
| Journal: |
Brain |
| Title: |
Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice. |
| Volume: |
135 |
| Issue: |
Pt 3 |
| Pages: |
819-32 |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
mutant strain, congenic, targeted mutation |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
congenic, mutant strain, targeted mutation |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
targeted mutation, transgenic, mutant stock |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Gpx1/Gpx1 Prkn/Prkn Park7/Park7 |
| Background: |
B6.Cg-Park7 Gpx1 Prkn |
| Zygosity: |
cx |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Park7/Park7 Pink1/Pink1 Rrn3/Rrn3 Tg(Slc6a3-cre/ERT2)1Span/? |
| Background: |
involves: 129 * 129P2/OlaHsd * 129S2/SvPas * C57BL/6J |
| Zygosity: |
cn |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Scudamore O |
| Year: |
2018 |
| Journal: |
J Neuropathol Exp Neurol |
| Title: |
Increased Oxidative Stress Exacerbates α-Synuclein Aggregation In Vivo. |
| Volume: |
77 |
| Issue: |
6 |
| Pages: |
443-453 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Wu H |
| Year: |
2019 |
| Journal: |
Cell Rep |
| Title: |
Decapping Enzyme NUDT12 Partners with BLMH for Cytoplasmic Surveillance of NAD-Capped RNAs. |
| Volume: |
29 |
| Issue: |
13 |
| Pages: |
4422-4434.e13 |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion 18, Philipp J Kahle |
| Allele Type: |
Transgenic |
| Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion 192, Richard Wade-Martins |
| Allele Type: |
Transgenic |
| Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
| Allele |
| Name: |
synaptojanin 1; targeted mutation 2.1, Pietro De Camilli |
| Allele Type: |
Targeted |
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kokotos AC |
| Year: |
2024 |
| Journal: |
Sci Adv |
| Title: |
Phosphoglycerate kinase is a central leverage point in Parkinson's disease-driven neuronal metabolic deficits. |
| Volume: |
10 |
| Issue: |
34 |
| Pages: |
eadn6016 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Bus C |
| Year: |
2020 |
| Journal: |
iScience |
| Title: |
Human Dopaminergic Neurons Lacking PINK1 Exhibit Disrupted Dopamine Metabolism Related to Vitamin B6 Co-Factors. |
| Volume: |
23 |
| Issue: |
12 |
| Pages: |
101797 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kang SS |
| Year: |
2021 |
| Journal: |
Acta Neuropathol |
| Title: |
ApoE4 inhibition of VMAT2 in the locus coeruleus exacerbates Tau pathology in Alzheimer's disease. |
| Volume: |
142 |
| Issue: |
1 |
| Pages: |
139-158 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mburu P |
| Year: |
2003 |
| Journal: |
Nat Genet |
| Title: |
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. |
| Volume: |
34 |
| Issue: |
4 |
| Pages: |
421-8 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Quwailid MM |
| Year: |
2004 |
| Journal: |
Mamm Genome |
| Title: |
A gene-driven ENU-based approach to generating an allelic series in any gene. |
| Volume: |
15 |
| Issue: |
8 |
| Pages: |
585-91 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Banks GT |
| Year: |
2011 |
| Journal: |
J Neurosci |
| Title: |
Behavioral and other phenotypes in a cytoplasmic Dynein light intermediate chain 1 mutant mouse. |
| Volume: |
31 |
| Issue: |
14 |
| Pages: |
5483-94 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Malty RH |
| Year: |
2017 |
| Journal: |
Cell Syst |
| Title: |
A Map of Human Mitochondrial Protein Interactions Linked to Neurodegeneration Reveals New Mechanisms of Redox Homeostasis and NF-κB Signaling. |
| Volume: |
5 |
| Issue: |
6 |
| Pages: |
564-577.e12 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Neuner J |
| Year: |
2014 |
| Journal: |
Sci Rep |
| Title: |
A30P α-Synuclein interferes with the stable integration of adult-born neurons into the olfactory network. |
| Volume: |
4 |
|
| Pages: |
3931 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Cardona AE |
| Year: |
2006 |
| Journal: |
Nat Neurosci |
| Title: |
Control of microglial neurotoxicity by the fractalkine receptor. |
| Volume: |
9 |
| Issue: |
7 |
| Pages: |
917-24 |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
109
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
156
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Family |
| Description: |
Hematopoietic lineage cell-specific protein-1 (HS1) binding protein 3 (HS1BP3) associates with HS1 proteins through their SH3 domains, suggesting a role in mediating signaling. It has been reported that HS1BP3 might affect the IL-2 signaling pathway in hematopoietic lineage cells []. Mutations in HS1BP3 may also be associated with familial Parkinson disease and essential tremor [, ]. HS1BP3 contains a PX domain, a leucine zipper, motifs similar to immunoreceptor tyrosine-based inhibitory motif and proline-rich regions []. |
|
•
•
•
•
•
|
| HT Experiment |
| Series Id: |
GSE72321 |
| Experiment Type: |
RNA-Seq |
| Study Type: |
WT vs. Mutant |
| Source: |
ArrayExpress |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Casadei N |
| Year: |
2014 |
| Journal: |
Hum Mol Genet |
| Title: |
Overexpression of synphilin-1 promotes clearance of soluble and misfolded alpha-synuclein without restoring the motor phenotype in aged A30P transgenic mice. |
| Volume: |
23 |
| Issue: |
3 |
| Pages: |
767-81 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kahle PJ |
| Year: |
2000 |
| Journal: |
J Neurosci |
| Title: |
Subcellular localization of wild-type and Parkinson's disease-associated mutant alpha -synuclein in human and transgenic mouse brain. |
| Volume: |
20 |
| Issue: |
17 |
| Pages: |
6365-73 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Fagerqvist T |
| Year: |
2013 |
| Journal: |
J Neurochem |
| Title: |
Monoclonal antibodies selective for α-synuclein oligomers/protofibrils recognize brain pathology in Lewy body disorders and α-synuclein transgenic mice with the disease-causing A30P mutation. |
| Volume: |
126 |
| Issue: |
1 |
| Pages: |
131-44 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Stylianou M |
| Year: |
2020 |
| Journal: |
Front Neurosci |
| Title: |
Early Disruption of Cortical Sleep-Related Oscillations in a Mouse Model of Dementia With Lewy Bodies (DLB) Expressing Human Mutant (A30P) Alpha-Synuclein. |
| Volume: |
14 |
|
| Pages: |
579867 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Robson E |
| Year: |
2018 |
| Journal: |
Neuroscience |
| Title: |
Impaired Fast Network Oscillations and Mitochondrial Dysfunction in a Mouse Model of Alpha-synucleinopathy (A30P). |
| Volume: |
377 |
|
| Pages: |
161-173 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Almandoz-Gil L |
| Year: |
2018 |
| Journal: |
Front Neurol |
| Title: |
In Situ Proximity Ligation Assay Reveals Co-Localization of Alpha-Synuclein and SNARE Proteins in Murine Primary Neurons. |
| Volume: |
9 |
|
| Pages: |
180 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Lindström V |
| Year: |
2014 |
| Journal: |
Neurobiol Dis |
| Title: |
Immunotherapy targeting α-synuclein protofibrils reduced pathology in (Thy-1)-h[A30P] α-synuclein mice. |
| Volume: |
69 |
|
| Pages: |
134-43 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Keane PC |
| Year: |
2019 |
| Journal: |
Neurosci Lett |
| Title: |
Trichloroethylene and its metabolite TaClo lead to degeneration of substantia nigra dopaminergic neurones: Effects in wild type and human A30P mutant α-synuclein mice. |
| Volume: |
711 |
|
| Pages: |
134437 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Schell H |
| Year: |
2012 |
| Journal: |
PLoS One |
| Title: |
Impaired c-Fos and polo-like kinase 2 induction in the limbic system of fear-conditioned α-synuclein transgenic mice. |
| Volume: |
7 |
| Issue: |
11 |
| Pages: |
e50245 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Szegő ÉM |
| Year: |
2013 |
| Journal: |
Neurobiol Aging |
| Title: |
Impairment of the septal cholinergic neurons in MPTP-treated A30P α-synuclein mice. |
| Volume: |
34 |
| Issue: |
2 |
| Pages: |
589-601 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Lindström V |
| Year: |
2017 |
| Journal: |
Mol Cell Neurosci |
| Title: |
Extensive uptake of α-synuclein oligomers in astrocytes results in sustained intracellular deposits and mitochondrial damage. |
| Volume: |
82 |
|
| Pages: |
143-156 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Freichel C |
| Year: |
2007 |
| Journal: |
Neurobiol Aging |
| Title: |
Age-dependent cognitive decline and amygdala pathology in alpha-synuclein transgenic mice. |
| Volume: |
28 |
| Issue: |
9 |
| Pages: |
1421-35 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Schell H |
| Year: |
2009 |
| Journal: |
Neuroscience |
| Title: |
Nuclear and neuritic distribution of serine-129 phosphorylated alpha-synuclein in transgenic mice. |
| Volume: |
160 |
| Issue: |
4 |
| Pages: |
796-804 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Ekmark-Lewén S |
| Year: |
2018 |
| Journal: |
Brain Behav |
| Title: |
Early fine motor impairment and behavioral dysfunction in (Thy-1)-h[A30P] alpha-synuclein mice. |
| Volume: |
8 |
| Issue: |
3 |
| Pages: |
e00915 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Schnack C |
| Year: |
2008 |
| Journal: |
Neuroscience |
| Title: |
Protein array analysis of oligomerization-induced changes in alpha-synuclein protein-protein interactions points to an interference with Cdc42 effector proteins. |
| Volume: |
154 |
| Issue: |
4 |
| Pages: |
1450-7 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kahle PJ |
| Year: |
2001 |
| Journal: |
Am J Pathol |
| Title: |
Selective insolubility of alpha-synuclein in human Lewy body diseases is recapitulated in a transgenic mouse model. |
| Volume: |
159 |
| Issue: |
6 |
| Pages: |
2215-25 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Szegő ÉM |
| Year: |
2021 |
| Journal: |
Front Neurosci |
| Title: |
A β-Wrapin Targeting the N-Terminus of α-Synuclein Monomers Reduces Fibril-Induced Aggregation in Neurons. |
| Volume: |
15 |
|
| Pages: |
696440 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Rotermund C |
| Year: |
2017 |
| Journal: |
J Neurochem |
| Title: |
Enhanced motivation to alcohol in transgenic mice expressing human α-synuclein. |
| Volume: |
143 |
| Issue: |
3 |
| Pages: |
294-305 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Veys L |
| Year: |
2021 |
| Journal: |
Front Neurosci |
| Title: |
Characterizing the Retinal Phenotype of the Thy1-h[A30P]α-syn Mouse Model of Parkinson's Disease. |
| Volume: |
15 |
|
| Pages: |
726476 |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion A, X William Yang |
| Allele Type: |
Transgenic |
| Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Tg(Thy1-SNCA*A30P)18Pjk/Tg(Thy1-SNCA*A30P)18Pjk |
| Background: |
involves: C57BL/6 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Morais VA |
| Year: |
2009 |
| Journal: |
EMBO Mol Med |
| Title: |
Parkinson's disease mutations in PINK1 result in decreased Complex I activity and deficient synaptic function. |
| Volume: |
1 |
| Issue: |
2 |
| Pages: |
99-111 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Liu YT |
| Year: |
2021 |
| Journal: |
Autophagy |
| Title: |
Mt-Keima detects PINK1-PRKN mitophagy in vivo with greater sensitivity than mito-QC. |
| Volume: |
17 |
| Issue: |
11 |
| Pages: |
3753-3762 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Koscielny G |
| Year: |
2014 |
| Journal: |
Nucleic Acids Res |
| Title: |
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. |
| Volume: |
42 |
| Issue: |
Database issue |
| Pages: |
D802-9 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Pourhaghighi R |
| Year: |
2020 |
| Journal: |
Cell Syst |
| Title: |
BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. |
| Volume: |
10 |
| Issue: |
4 |
| Pages: |
333-350.e14 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Zhang T |
| Year: |
2020 |
| Journal: |
PLoS Genet |
| Title: |
High-throughput discovery of genetic determinants of circadian misalignment. |
| Volume: |
16 |
| Issue: |
1 |
| Pages: |
e1008577 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Chee JM |
| Year: |
2023 |
| Journal: |
BMC Biol |
| Title: |
Genome-wide screening reveals the genetic basis of mammalian embryonic eye development. |
| Volume: |
21 |
| Issue: |
1 |
| Pages: |
22 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Watzlawik JO |
| Year: |
2024 |
| Journal: |
Autophagy |
| Title: |
Development and characterization of phospho-ubiquitin antibodies to monitor PINK1-PRKN signaling in cells and tissue. |
| Volume: |
20 |
| Issue: |
9 |
| Pages: |
2076-2091 |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Domain |
| Description: |
Hematopoietic lineage cell-specific protein-1 (HS1) binding protein 3 (HS1BP3) associates with HS1 proteins through their SH3 domains, suggesting a role in mediating signaling. It has been reported that HS1BP3 might affect the IL-2 signaling pathway in hematopoietic lineage cells []. Mutations in HS1BP3 may also be associated with familial Parkinson disease and essential tremor [, ]. HS1BP3 contains a PX domain, a leucine zipper, motifs similar to immunoreceptor tyrosine-based inhibitory motif and proline-rich regions [].This entry represents the PX domain of HS1BP3. In general, the PX domain interacts with PIs and plays a role in targeting proteins to PI-enriched membranes []. |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Rathke-Hartlieb S |
| Year: |
2001 |
| Journal: |
J Neurochem |
| Title: |
Sensitivity to MPTP is not increased in Parkinson's disease-associated mutant alpha-synuclein transgenic mice. |
| Volume: |
77 |
| Issue: |
4 |
| Pages: |
1181-4 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Diepenbroek M |
| Year: |
2014 |
| Journal: |
Hum Mol Genet |
| Title: |
Overexpression of the calpain-specific inhibitor calpastatin reduces human alpha-Synuclein processing, aggregation and synaptic impairment in [A30P]αSyn transgenic mice. |
| Volume: |
23 |
| Issue: |
15 |
| Pages: |
3975-89 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Szegő ÉM |
| Year: |
2019 |
| Journal: |
Cell Rep |
| Title: |
Cytosolic Trapping of a Mitochondrial Heat Shock Protein Is an Early Pathological Event in Synucleinopathies. |
| Volume: |
28 |
| Issue: |
1 |
| Pages: |
65-77.e6 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Tweedy C |
| Year: |
2021 |
| Journal: |
Neurobiol Dis |
| Title: |
Hippocampal network hyperexcitability in young transgenic mice expressing human mutant alpha-synuclein. |
| Volume: |
149 |
|
| Pages: |
105226 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Paiva I |
| Year: |
2018 |
| Journal: |
Neurobiol Dis |
| Title: |
Alpha-synuclein deregulates the expression of COL4A2 and impairs ER-Golgi function. |
| Volume: |
119 |
|
| Pages: |
121-135 |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion 39, Eric K Richfield |
| Allele Type: |
Transgenic |
| Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion D, X William Yang |
| Allele Type: |
Transgenic |
| Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Cao M |
| Year: |
2020 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
Absence of Sac2/INPP5F enhances the phenotype of a Parkinson's disease mutation of synaptojanin 1. |
| Volume: |
117 |
| Issue: |
22 |
| Pages: |
12428-12434 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Ng XY |
| Year: |
2023 |
| Journal: |
NPJ Parkinsons Dis |
| Title: |
Mutations in Parkinsonism-linked endocytic proteins synaptojanin1 and auxilin have synergistic effects on dopaminergic axonal pathology. |
| Volume: |
9 |
| Issue: |
1 |
| Pages: |
26 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Takemoto Y |
| Year: |
1999 |
| Journal: |
Int Immunol |
| Title: |
Isolation and characterization of a novel HS1 SH3 domain binding protein, HS1BP3. |
| Volume: |
11 |
| Issue: |
12 |
| Pages: |
1957-64 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Higgins JJ |
| Year: |
2006 |
| Journal: |
Mov Disord |
| Title: |
HS1-BP3 gene variant is common in familial essential tremor. |
| Volume: |
21 |
| Issue: |
3 |
| Pages: |
306-9 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Smith WW |
| Year: |
2006 |
| Journal: |
Nat Neurosci |
| Title: |
Kinase activity of mutant LRRK2 mediates neuronal toxicity. |
| Volume: |
9 |
| Issue: |
10 |
| Pages: |
1231-3 |
|
•
•
•
•
•
|
| HT Experiment |
| Series Id: |
GSE43670 |
| Experiment Type: |
transcription profiling by array |
| Study Type: |
WT vs. Mutant |
| Source: |
ArrayExpress |
|
•
•
•
•
•
|
| HT Experiment |
|
| Experiment Type: |
RNA-Seq |
| Study Type: |
WT vs. Mutant |
| Source: |
GEO |
|
•
•
•
•
•
|
| Allele |
| Name: |
coiled-coil-helix-coiled-coil-helix domain containing 2; targeted mutation 1, Nobutaka Hattori |
| Allele Type: |
Targeted |
| Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Karp NA |
| Year: |
2017 |
| Journal: |
Nat Commun |
| Title: |
Prevalence of sexual dimorphism in mammalian phenotypic traits. |
| Volume: |
8 |
|
| Pages: |
15475 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Meehan TF |
| Year: |
2017 |
| Journal: |
Cancer Res |
| Title: |
PDX-MI: Minimal Information for Patient-Derived Tumor Xenograft Models. |
| Volume: |
77 |
| Issue: |
21 |
| Pages: |
e62-e66 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Bowl MR |
| Year: |
2017 |
| Journal: |
Nat Commun |
| Title: |
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. |
| Volume: |
8 |
| Issue: |
1 |
| Pages: |
886 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Cacheiro P |
| Year: |
2020 |
| Journal: |
Nat Commun |
| Title: |
Human and mouse essentiality screens as a resource for disease gene discovery. |
| Volume: |
11 |
| Issue: |
1 |
| Pages: |
655 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Sen NE |
| Year: |
2016 |
| Journal: |
Neurobiol Dis |
| Title: |
Search for SCA2 blood RNA biomarkers highlights Ataxin-2 as strong modifier of the mitochondrial factor PINK1 levels. |
| Volume: |
96 |
|
| Pages: |
115-126 |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
96
 |
| Fragment?: |
true |
|
•
•
•
•
•
|