(Q34980853)

English

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

0 references

1 reference

based on heuristic

inferred from title

intellectual disability

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

Kerstin Kutsche

8

object named as

Kerstin Kutsche

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

author name string

Hengameh Abdollahpour

1

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Malik Alawi

2

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Fanny Kortüm

3

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Michael Beckstette

4

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Eva Seemanova

5

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Vladimír Komárek

6

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Georg Rosenberger

7

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

language of work or name

1 reference

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inferred from title

publication date

30 April 2014

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

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5 August 2017

23

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Europe PubMed Central

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5 August 2017

2

1 reference

Europe PubMed Central

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5 August 2017

256-259

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

https://scigraph.springernature.com/pub.10.1038/ejhg.2014.73

0 references

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297901

8 July 2018

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297901

8 July 2018

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297901

8 July 2018

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297901

8 July 2018

Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297901

8 July 2018

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297901

8 July 2018

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297901

8 July 2018

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297901

8 July 2018

Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297901

8 July 2018

Accumulation of AMPA receptors in autophagosomes in neuronal axons lacking adaptor protein AP-4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297901

8 July 2018

Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297901

8 July 2018

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297901

8 July 2018

Vesicle formation at the plasma membrane and trans-Golgi network: the same but different

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297901

8 July 2018

Characterization of a fourth adaptor-related protein complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297901

8 July 2018

AP-4, a novel protein complex related to clathrin adaptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297901

8 July 2018

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297901

8 July 2018

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.73

21 January 2018

A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.73

21 January 2018

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.73

21 January 2018

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

1 reference

https://pubmed.ncbi.nlm.nih.gov/24781758

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2014.73

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

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