KEGG NETWORK: N00964

NETWORK: N00964

Entry

N00964                      Network

Name

DAB1-overexpression to RELN-VLDLR-PI3K signaling pathway

Definition

RELN -> VLDLR == DAB1* -> PI3K -> PIP3 -> AKT

Expanded

5649 -> 7436 == 1600v1 -> (5290,5291,5293) -> C05981 -> (207,208,10000)

Class

nt06462 Spinocerebellar ataxia

Type

Variant

Pathway

hsa05017

Spinocerebellar ataxia

Disease

H00063

Spinocerebellar ataxia (SCA)

Gene

5649	RELN; reelin

7436	VLDLR; very low density lipoprotein receptor

1600	DAB1; DAB adaptor protein 1

5290	PIK3CA; phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

5291	PIK3CB; phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta

5293	PIK3CD; phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta

207	AKT1; AKT serine/threonine kinase 1

208	AKT2; AKT serine/threonine kinase 2

10000

AKT3; AKT serine/threonine kinase 3

Variant

1600v1 (DAB1*) DAB1 overexpression

Metabolite

C05981

Phosphatidylinositol-3,4,5-trisphosphate

Reference

PMID:29939198

Authors

Corral-Juan M, Serrano-Munuera C, Rabano A, Cota-Gonzalez D, Segarra-Roca A, Ispierto L, Cano-Orgaz AT, Adarmes AD, Mendez-Del-Barrio C, Jesus S, Mir P, Volpini V, Alvarez-Ramo R, Sanchez I, Matilla-Duenas A

Title

Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37.

Journal

Brain 141:1981-1997 (2018)
DOI:10.1093/brain/awy137

Reference

PMID:31145571

Authors

Matilla-Duenas A, Volpini V

Title

Spinocerebellar Ataxia Type 37

Journal

GeneReviews (1993)

All links

Pathway (1)   
   KEGG PATHWAY (1)   
Network (1)   
   KEGG VARIANT (1)   
Chemical substance (1)   
   KEGG COMPOUND (1)   
Gene (9)   
   KEGG GENES (9)   
Literature (2)   
   PubMed (2)   
All databases (14)   

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