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Article

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

PLoS genetics - 1 Apr 2018

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

Abstract excerpt

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 HSP referred to as "AP-4 deficiency syndrome". In addition to lower limb spasticity, this syndrome features...

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PMID: 29698489
DOI: 10.1371/journal.pgen.1007363
PMCID: PMC5940238

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HTT

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Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome.PMID 29698489Read ↗

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