Utilizing RNA and outlier analysis to identify an intronic splice‐altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

(2019) Laure Frésard et al.   NATURE MEDICINE

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

(2018) Raffaella De Pace et al.   PLoS Genetics

A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation

(2017) Katharina Vill et al.   MOVEMENT DISORDERS

The impact of rare variation on gene expression across tissues

(2017) Xin Li et al.   NATURE

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

(2017) Beryl B. Cummings et al.   Science Translational Medicine

Genetic diagnosis of Mendelian disorders via RNA sequencing

(2017) Laura S. Kremer et al.   Nature Communications

Identification of mutations inAP4S1/SPG52 through next generation sequencing in three families

(2016) A. Tessa et al.   EUROPEAN JOURNAL OF NEUROLOGY

Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication

(2015) Andrew Kodani et al.   eLife

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

(2015) Katia Hardies et al.   HUMAN MOLECULAR GENETICS

In silico prediction of splice-altering single nucleotide variants in the human genome

(2014) Xueqiu Jian et al.   NUCLEIC ACIDS RESEARCH

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

Sorting of the Alzheimer's Disease Amyloid Precursor Protein Mediated by the AP-4 Complex

(2010) Patricia V. Burgos et al.   DEVELOPMENTAL CELL

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