De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease

Retromer Binding to FAM21 and the WASH Complex Is Perturbed by the Parkinson Disease-Linked VPS35(D620N) Mutation

(2014) Ian J. McGough et al.   CURRENT BIOLOGY

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Pharmacological chaperones stabilize retromer to limit APP processing

(2014) Vincent J Mecozzi et al.   Nature Chemical Biology

Mutation in VPS35 associated with Parkinson’s disease impairs WASH complex association and inhibits autophagy

(2014) Eszter Zavodszky et al.   Nature Communications

Endosomal recruitment of the WASH complex: Active sequences and mutations impairing interaction with the retromer

(2013) Emmanuèle Helfer et al.   BIOLOGY OF THE CELL

Microtubule Affinity-Regulating Kinase 4: Structure, Function, and Regulation

(2013) Farha Naz et al.   CELL BIOCHEMISTRY AND BIOPHYSICS

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease

(2013) Carlos Cruchaga et al.   NATURE

Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease

(2013) Jacob Gratten et al.   NATURE GENETICS

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

(2013) Jean-Charles Lambert et al.   NATURE GENETICS

Role of Individual MARK Isoforms in Phosphorylation of Tau at Ser262 in Alzheimer’s Disease

(2013) Gucci Jijuan Gu et al.   NEUROMOLECULAR MEDICINE

Retromer-mediated endosomal protein sorting: all WASHed up!

(2013) Matthew N.J. Seaman et al.   TRENDS IN CELL BIOLOGY

Properties and rates of germline mutations in humans

(2013) Catarina D. Campbell et al.   TRENDS IN GENETICS

Retromer Binds the FANSHY Sorting Motif in SorLA to Regulate Amyloid Precursor Protein Sorting and Processing

(2012) A. W. Fjorback et al.   JOURNAL OF NEUROSCIENCE

Identification of BACE2 as an avid ß-amyloid-degrading protease

(2012) Samer O Abdul-Hay et al.   Molecular Neurodegeneration

High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

(2012) C Pottier et al.   MOLECULAR PSYCHIATRY

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

The location and trafficking routes of the neuronal retromer and its role in amyloid precursor protein transport

(2012) Akhil Bhalla et al.   NEUROBIOLOGY OF DISEASE

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Variant of TREM2 Associated with the Risk of Alzheimer's Disease

(2012) Thorlakur Jonsson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Amyloid precursor protein (APP) traffics from the cell surface via endosomes for amyloid β (Aβ) production in thetrans-Golgi network

(2012) Regina Wai-Yan Choy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The diagnosis of dementia due to Alzheimer’s disease: Recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer's disease

(2011) Guy M. McKhann et al.   Alzheimers & Dementia

A critical role for the PAR-1/MARK-tau axis in mediating the toxic effects of Aβ on synapses and dendritic spines

(2011) Wendou Yu et al.   HUMAN MOLECULAR GENETICS

VPS35 haploinsufficiency increases Alzheimer’s disease neuropathology

(2011) Lei Wen et al.   JOURNAL OF CELL BIOLOGY

Retromer disruption promotes amyloidogenic APP processing

(2011) Christopher P. Sullivan et al.   NEUROBIOLOGY OF DISEASE

Tau Ser262 phosphorylation is critical for A 42-induced tau toxicity in a transgenic Drosophila model of Alzheimer's disease

(2010) K. Iijima et al.   HUMAN MOLECULAR GENETICS

The cargo-selective retromer complex is a recruiting hub for protein complexes that regulate endosomal tubule dynamics

(2010) M. E. Harbour et al.   JOURNAL OF CELL SCIENCE

Diabetes-Associated SorCS1 Regulates Alzheimer's Amyloid-  Metabolism: Evidence for Involvement of SorL1 and the Retromer Complex

(2010) R. F. Lane et al.   JOURNAL OF NEUROSCIENCE

Retrieval of the Alzheimer's amyloid precursor protein from the endosome to the TGN is S655 phosphorylation state-dependent and retromer-mediated

(2010) Sandra I Vieira et al.   Molecular Neurodegeneration

Conserved role of intragenic DNA methylation in regulating alternative promoters

(2010) Alika K. Maunakea et al.   NATURE

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

A domain level interaction network of amyloid precursor protein and Aβ of Alzheimer's disease

(2010) Victoria M. Perreau et al.   PROTEOMICS

Membrane recruitment of the cargo-selective retromer subcomplex is catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP TBC1D5

(2009) M. N. J. Seaman et al.   JOURNAL OF CELL SCIENCE

Helicobacter pylori CagA inhibits PAR1-MARK family kinases by mimicking host substrates

(2009) Dragana Nes̆ić et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Retromer deficiency observed in Alzheimer's disease causes hippocampal dysfunction, neurodegeneration, and A  accumulation

(2008) A. Muhammad et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA