INT229791

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Context Info
Confidence 0.73
First Reported 2008
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 2
Total Number 15
Disease Relevance 6.48
Pain Relevance 1.21

This is a graph with borders and nodes. Maybe there is an Imagemap used so the nodes may be linking to some Pages.

Golgi apparatus (RAB7A) GTPase activity (RAB7A) lysosome (RAB7A)
Anatomy Link Frequency
neurons 1
HeLa 1
neurite 1
RAB7A (Homo sapiens)
RAB7A - L129F (2)
Pain Link Frequency Relevance Heat
Hsan 94 96.72 Very High Very High Very High
Congenital analgesia 14 75.24 Quite High
Nerve growth factor 14 73.04 Quite High
Pain 46 69.80 Quite High
imagery 72 7.84 Low Low
Demyelination 15 5.00 Very Low Very Low Very Low
Peripheral nervous system 14 5.00 Very Low Very Low Very Low
unmyelinated 2 5.00 Very Low Very Low Very Low
Spinal cord 1 5.00 Very Low Very Low Very Low
lancinating pain 1 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Disease 1088 99.92 Very High Very High Very High
Neuropathic Pain 27 99.20 Very High Very High Very High
Neurodegenerative Disease 56 98.24 Very High Very High Very High
Hereditary Sensory And Autonomic Neuropathies 101 96.72 Very High Very High Very High
Neurological Disease 30 84.36 Quite High
Syndrome 35 81.92 Quite High
Spinocerebellar Ataxia Type 2 14 77.96 Quite High
Atrophic Muscular Disorders 14 76.04 Quite High
Pain 61 75.24 Quite High
Intellectual Impairment 14 73.84 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Although Rab7 is ubiquitously expressed, disease mutations cause adult-onset, slowly progressive disease that is restricted to the neurons with the longest axonal projections.
Gene_expression (expressed) of Rab7 in neurons associated with disease
1) Confidence 0.73 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2830827 Disease Relevance 0.62 Pain Relevance 0
Indeed, overexpression of constitutively active Rab7 leads to developmental defects in Drosophila (33,34).
Gene_expression (overexpression) of Rab7
2) Confidence 0.73 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2830827 Disease Relevance 0.61 Pain Relevance 0
Wild-type, L129F, and V162M His-MBP-Rab7 fusion proteins were expressed and purified from bacteria as described in Supplementary Material, but the His-MBP tag was not cleaved.
Gene_expression (expressed) of Rab7
3) Confidence 0.73 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2830827 Disease Relevance 0 Pain Relevance 0
Although the function of RAB7 has already been studied in detail, it remains still unknown how mutations in the ubiquitously expressed RAB7 gene cause a CMT2B neuropathy [30].

4.

Gene_expression (expressed) of RAB7 associated with neuropathic pain
4) Confidence 0.72 Published 2008 Journal Orphanet J Rare Dis Section Body Doc Link PMC2311280 Disease Relevance 0.74 Pain Relevance 0.51
Full-length L129F Rab7 was produced and crystallized as described in Supplementary Material.
Gene_expression (produced) of L129F Rab7 (L129F)
5) Confidence 0.64 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2830827 Disease Relevance 0.29 Pain Relevance 0.24
As in the cell-free system, Rab7 mutants were able to undergo nucleotide exchange more readily than wild-type Rab7 despite equal immunoprecipitation of Rab7 in each condition (Fig. 3C).
Gene_expression (mutants) of Rab7
6) Confidence 0.63 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2830827 Disease Relevance 0.21 Pain Relevance 0
In Rab7 mutants, ?
Gene_expression (mutants) of Rab7
7) Confidence 0.63 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2830827 Disease Relevance 0.27 Pain Relevance 0
To determine whether disease mutations affect Rab7 subcellular localization, we analyzed the distribution of GFP-tagged Rab7 in HeLa cells.
Gene_expression (tagged) of Rab7 in HeLa associated with disease
8) Confidence 0.63 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2830827 Disease Relevance 0.52 Pain Relevance 0
Mutant Rab7 undergoes GEF-independent nucleotide exchange and excessive activation
Gene_expression (undergoes) of Rab7
9) Confidence 0.63 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2830827 Disease Relevance 0.30 Pain Relevance 0
Unregulated Rab7 cycling and accumulation of activated Rab7
Gene_expression (cycling) of Rab7
10) Confidence 0.63 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2830827 Disease Relevance 0.48 Pain Relevance 0
Mutant Rab7 undergoes GEF-independent nucleotide exchange and excessive activation
Gene_expression (Mutant) of Rab7
11) Confidence 0.63 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2830827 Disease Relevance 0.30 Pain Relevance 0
Functional consequences of Rab7 mutations
Gene_expression (mutations) of Rab7
12) Confidence 0.63 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2830827 Disease Relevance 1.14 Pain Relevance 0
To test this, we performed pull-down assays using an immobilized Rab7 binding region of the Rab7 effector Rab-interacting lysosomal protein (RILP) and lysates from HEK293T cells expressing GFP–Rab7 (23).
Gene_expression (expressing) of Rab7
13) Confidence 0.57 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2830827 Disease Relevance 0.26 Pain Relevance 0
In cultured neurons, over-expression of dominant-negative Rab7 reduces the degradation of TrkA-containing signaling endosomes leading to increased trophic signaling and excessive neurite outgrowth (9).
Gene_expression (expression) of Rab7 in neurite
14) Confidence 0.57 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2830827 Disease Relevance 0.44 Pain Relevance 0.21
Determination of the structure of L129F Rab7
Gene_expression (structure) of L129F Rab7 (L129F)
15) Confidence 0.55 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2830827 Disease Relevance 0.29 Pain Relevance 0.25

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