Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy
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The fifth adaptor protein complexAdaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short statureAdaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegiaComplicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).Structural and Functional Characterization of Cargo-Binding Sites on the μ4-Subunit of Adaptor Protein Complex 4Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyMultivariate proteomic profiling identifies novel accessory proteins of coated vesiclesEpileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.Cerebral Palsy-Trends in Epidemiology and Recent Development in Prenatal Mechanisms of Disease, Treatment, and PreventionHereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Adaptor protein complexes and intracellular transport.Construction and analysis of the protein-protein interaction networks for schizophrenia, bipolar disorder, and major depressionAdaptor proteins involved in polarized sortingBivalent Motif-Ear Interactions Mediate the Association of the Accessory Protein Tepsin with the AP-4 Adaptor Complex.A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiencyAn AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disabilityRecessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.Contiguous mutation syndrome in the era of high-throughput sequencing.Signal-peptide-peptidase-like 2a is required for CD74 intramembrane proteolysis in human B cellsGenetic [corrected] insights into the causes and classification of [corrected] cerebral palsies.The use of next-generation sequencing in movement disordersCOL4A2 mutation associated with familial porencephaly and small-vessel disease.Severe congenital microcephaly with AP4M1 mutation, a case report.Rare copy number variation in cerebral palsy.Mutations in γ adducin are associated with inherited cerebral palsy.Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease.De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features.Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.The genetic basis of cerebral palsy.Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population.Genetic association study of adaptor protein complex 4 with cerebral palsy in a Han Chinese population.Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.AP-4 mediates export of ATG9A from the trans-Golgi network to promote autophagosome formation.CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability.A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation.AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?
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P2860
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 25 June 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy
@en
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
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type
label
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy
@en
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
@nl
prefLabel
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy
@en
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
@nl
P2093
P2860
P1476
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy
@en
P2093
A L van Zwol
Aida M Bertoli-Avella
Annemieke J M H Verkerk
Belinda Dumee
Coriene Catsman-Berrevoets
Esther de Graaff
Frans W Verheijen
Grazia M S Mancini
Irenaeus F M de Coo
Jennifer Hirst
P2860
P356
10.1016/J.AJHG.2009.06.004
P407
P577
2009-06-25T00:00:00Z