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

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

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

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

(2013) Pierre Cacciagli et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease

(2013) Xiao-Fei Kong et al.   PLoS One

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

(2012) M Andrew Nesbit et al.   NATURE GENETICS

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

(2012) Peter Bauer et al.   NEUROGENETICS

Adaptor Protein Complexes AP-4 and AP-5: New Players in Endosomal Trafficking and Progressive Spastic Paraplegia

(2012) Jennifer Hirst et al.   TRAFFIC

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

(2011) Rami Abou Jamra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) Lubov Blumkin et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

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

(2010) A. Moreno-De-Luca et al.   JOURNAL OF MEDICAL GENETICS

Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

(2009) Annemieke J.M.H. Verkerk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical, cellular, and neuropathological consequences ofAP1S2mutations: further delineation of a recognizable X-linked mental retardation syndrome

(2008) Guntram Borck et al.   HUMAN MUTATION

Accumulation of AMPA Receptors in Autophagosomes in Neuronal Axons Lacking Adaptor Protein AP-4

(2008) Shinji Matsuda et al.   NEURON

Disruption of AP1S1, Causing a Novel Neurocutaneous Syndrome, Perturbs Development of the Skin and Spinal Cord

(2008) Alexandre Montpetit et al.   PLoS Genetics