Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome

The hereditary spastic paraplegias (HSP) are a clinically and genetically heterogeneous group of disorders characterized by progressive lower limb spasticity. Mutations in subunits of the heterotetrameric (ε-β4-μ4-σ4) adaptor protein 4 (AP-4) complex cause an autosomal recessive form of complicated...

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Veröffentlicht in:	PLoS genetics 2018-04, Vol.14 (4), p.e1007363-e1007363
Hauptverfasser:	De Pace, Raffaella, Skirzewski, Miguel, Damme, Markus, Mattera, Rafael, Mercurio, Jeffrey, Foster, Arianne M, Cuitino, Loreto, Jarnik, Michal, Hoffmann, Victoria, Morris, H Douglas, Han, Tae-Un, Mancini, Grazia M S, Buonanno, Andrés, Bonifacino, Juan S
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Protein Complex 4 - chemistry Adaptor Protein Complex 4 - deficiency Adaptor Protein Complex 4 - genetics Adaptor Protein Complex Subunits - chemistry Adaptor Protein Complex Subunits - deficiency Adaptor Protein Complex Subunits - genetics Animals Autophagy Autophagy-Related Proteins - metabolism Axons Axons - metabolism Behavior, Animal - physiology Biology Biology and Life Sciences Brain - metabolism Brain - pathology Cell death Childrens health Corpus callosum Cytoplasm Development and progression Diagnosis Disease Models, Animal Dystrophy Female Fibroblasts Funding Genes Genetic aspects Golgi apparatus Humans Huntingtin Huntingtin Protein - chemistry Huntingtin Protein - genetics Huntingtin Protein - metabolism Intellectual disabilities Language disorders Male Medicine and Health Sciences Membrane Proteins - metabolism Mice Mice, Inbred C57BL Mice, Knockout Microcephaly Microencephaly Mutation Neurobiology Neurons Neurons - metabolism Neurosciences Paralysis Phagocytosis Phenotypes Protein Aggregates - genetics Protein Aggregation, Pathological - genetics Protein Aggregation, Pathological - metabolism Proteins Receptors, Glutamate - metabolism Research and Analysis Methods Seizures Skin Spastic paraplegia Spastic Paraplegia, Hereditary - genetics Spastic Paraplegia, Hereditary - metabolism Spastic Paraplegia, Hereditary - pathology Spasticity Spinal cord Spinal Cord - metabolism Spinal Cord - pathology trans-Golgi Network - metabolism Vesicular Transport Proteins - metabolism
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