(Q24337384)

English

The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions

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scholarly article

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The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions (English)

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Abelson helper integration site 1

1 reference

GOA release 2020-03-11

identical protein binding

1 reference

GOA release 2020-03-11

Huntingtin-associated protein 1

1 reference

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

protein-protein interaction

1 reference

based on heuristic

inferred from title

author name string

Karina Tuz

1

author given names

Karina

author last names

Tuz

1 reference

22 October 2023

Yi-Chun Hsiao

2

author given names

Yi-Chun

author last names

Hsiao

1 reference

22 October 2023

Oscar Juárez

3

author given names

Oscar

author last names

Juárez

1 reference

22 October 2023

Bingxing Shi

4

author given names

Bingxing

author last names

Shi

1 reference

22 October 2023

Erin Y Harmon

5

author given names

Erin Y

author last names

Harmon

1 reference

22 October 2023

Ian G Phelps

6

author given names

Ian G

author last names

Phelps

1 reference

22 October 2023

Michelle R Lennartz

7

author given names

Michelle R

author last names

Lennartz

1 reference

22 October 2023

Ian A Glass

8

author given names

Ian A

author last names

Glass

1 reference

22 October 2023

Dan Doherty

9

author given names

Dan

author last names

Doherty

1 reference

22 October 2023

Russell J Ferland

10

author given names

Russell J

author last names

Ferland

1 reference

22 October 2023

language of work or name

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publication date

10 May 2013

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Journal of Biological Chemistry

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288

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19

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13676-94

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Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

Jouberin localizes to collecting ducts and interacts with nephrocystin-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

A human HAP1 homologue. Cloning, expression, and interaction with huntingtin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

The Ciliopathies: An Emerging Class of Human Genetic Disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

Neuronal Abelson helper integration site-1 (Ahi1) deficiency in mice alters TrkB signaling with a depressive phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

The ancient regulatory-protein family of WD-repeat proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

The graded response to Sonic Hedgehog depends on cilia architecture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

Lack of huntingtin-associated protein-1 causes neuronal death resembling hypothalamic degeneration in Huntington's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

19 March 2017

The primary cilium: a signalling centre during vertebrate development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

7 April 2017

Coiled coils: a highly versatile protein folding motif

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

7 April 2017

Subcellular spatial regulation of canonical Wnt signalling at the primary cilium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

27 September 2017

GABAergic signaling by AgRP neurons prevents anorexia via a melanocortin-independent mechanism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

27 September 2017

Clinical and molecular features of Joubert syndrome and related disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

27 September 2017

Huntingtin associated protein 1 and its functions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

27 September 2017

Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

27 September 2017

Association of common variants in the Joubert syndrome gene (AHI1) with autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

27 September 2017

Regulation of intracellular HAP1 trafficking

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

27 September 2017

The ratio of oxidative phosphorylation complexes I-V in bovine heart mitochondria and the composition of respiratory chain supercomplexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

27 September 2017

The cellular and subcellular localization of huntingtin-associated protein 1 (HAP1): comparison with huntingtin in rat and human.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650405

27 September 2017

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.420786

21 January 2018

Abnormal association of mutant huntingtin with synaptic vesicles inhibits glutamate release

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.420786

21 January 2018

New insights into the respiratory chain of plant mitochondria. Supercomplexes and a unique composition of complex II.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.420786

21 January 2018

Hypothalamic huntingtin-associated protein 1 as a mediator of feeding behavior.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.420786

21 January 2018

Targeted disruption of Huntingtin-associated protein-1 (Hap1) results in postnatal death due to depressed feeding behavior.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.420786

21 January 2018

Nephronophthisis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23532844

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1074/JBC.M112.420786

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release_nbt6liuaobbyhmsic5qu5vqawa

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