(Q35234093)

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Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25552650%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly (English)

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26 February 2020

2

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26 February 2020

6

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26 February 2020

9

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26 February 2020

10

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26 February 2020

author name string

Katia Hardies

1

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26 February 2020

Tania Djémié

3

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26 February 2020

Oana Tarta-Arsene

4

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26 February 2020

Tine Deconinck

5

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26 February 2020

AR working group of the EuroEPINOMICS RES Consortium

7

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26 February 2020

Ingo Helbig

8

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26 February 2020

Peter De Jonghe

12

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26 February 2020

Jennifer Hirst

13

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26 February 2020

Sarah Weckhuysen

11

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26 February 2020

publication date

30 December 2014

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26 February 2020

Human Molecular Genetics

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26 February 2020

24

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26 February 2020

8

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26 February 2020

2218-2227

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25552650%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 July 2018

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 July 2018

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 July 2018

Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 July 2018

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 July 2018

A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 July 2018

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 July 2018

Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 July 2018

De novo mutations in epileptic encephalopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 July 2018

An ESCRT-spastin interaction promotes fission of recycling tubules from the endosome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 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=4380070

27 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=4380070

27 July 2018

Multivariate proteomic profiling identifies novel accessory proteins of coated vesicles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 July 2018

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 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=4380070

27 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=4380070

27 July 2018

A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 July 2018

A large-scale conformational change couples membrane recruitment to cargo binding in the AP2 clathrin adaptor complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 July 2018

Sorting of the Alzheimer's disease amyloid precursor protein mediated by the AP-4 complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 July 2018

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 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=4380070

27 July 2018

Loss of inhibitory neuron AMPA receptors contributes to ataxia and epilepsy in stargazer mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 July 2018

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 July 2018

Absence seizures in C3H/HeJ and knockout mice caused by mutation of the AMPA receptor subunit Gria4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 July 2018

NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 July 2018

Adaptable adaptors for coated vesicles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 July 2018

Molecular architecture and functional model of the endocytic AP2 complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 July 2018

Genetic analyses of adaptin function from yeast to mammals.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 July 2018

Distinct and redundant functions of mu1 medium chains of the AP-1 clathrin-associated protein complex in the nematode Caenorhabditis elegans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

27 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=4380070

27 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=4380070

27 July 2018

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

26 September 2018

Glutamatergic system controls synchronization of spontaneous neuronal activity in the murine neonatal entorhinal cortex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

26 September 2018

Recent advances in the molecular genetics of epilepsy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

26 September 2018

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

26 September 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

26 September 2018

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

26 September 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=4380070

26 September 2018

Adaptor protein complex-4 (AP-4) is expressed in the central nervous system neurons and interacts with glutamate receptor delta2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

26 September 2018

Molecular genetic analysis of apm-2 and aps-2, genes encoding the medium and small chains of the AP-2 clathrin-associated protein complex in the nematode Caenorhabditis elegans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

26 September 2018

Role of Drosophila alpha-adaptin in presynaptic vesicle recycling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380070

26 September 2018

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU740

21 January 2018

Early-onset epilepsy and postnatal lethality associated with an editing-deficient GluR-B allele in mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/25552650

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features

1 reference

https://pubmed.ncbi.nlm.nih.gov/25552650

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25552650

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early embryonic death of mice deficient in gamma-adaptin

1 reference

https://pubmed.ncbi.nlm.nih.gov/25552650

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDU740

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25552650%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25552650%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25552650%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

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