Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans

Function of inhibitor of Bruton's tyrosine kinase isoform α (IBTKα) in nonalcoholic steatohepatitis links autophagy and the unfolded protein response

(2017) Jeffrey A. Willy et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Acetaminophen induces accumulation of functional rat CYP3A via polyubiquitination dysfunction

(2016) Masataka Santoh et al.   Scientific Reports

PIPs in neurological diseases

(2015) Mark G. Waugh   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

(2015) Ghayda M Mirzaa et al.   LANCET NEUROLOGY

Astrocytic CCAAT/Enhancer Binding Protein δ Regulates Neuronal Viability and Spatial Learning Ability via miR-135a

(2015) Yu-Yi Chu et al.   MOLECULAR NEUROBIOLOGY

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

(2015) Naiara Akizu et al.   NATURE GENETICS

Structure and flexibility of the endosomal Vps34 complex reveals the basis of its function on membranes

(2015) K. Rostislavleva et al.   SCIENCE

Conformations of tissue plasminogen activator (tPA) orchestrate neuronal survival by a crosstalk between EGFR and NMDAR

(2015) T Bertrand et al.   Cell Death & Disease

Dissection of autophagy in human platelets

(2014) Wenfeng Feng et al.   Autophagy

Cortical and Clonal Contribution of Tbr2 Expressing Progenitors in the Developing Mouse Brain

(2014) Navneet A. Vasistha et al.   CEREBRAL CORTEX

TPC1 Has Two Variant Isoforms, and Their Removal Has Different Effects on Endo-Lysosomal Functions Compared to Loss of TPC2

(2014) M. Ruas et al.   MOLECULAR AND CELLULAR BIOLOGY

Connexins modulate autophagosome biogenesis

(2014) Eloy Bejarano et al.   NATURE CELL BIOLOGY

Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease

(2013) Ivan Nemazanyy et al.   EMBO Molecular Medicine

The Neural Cell Adhesion Molecule (NCAM) Associates with and Signals through p21-Activated Kinase 1 (Pak1)

(2013) S. Li et al.   JOURNAL OF NEUROSCIENCE

Assessment and Improvement of Statistical Tools for Comparative Proteomics Analysis of Sparse Data Sets with Few Experimental Replicates

(2013) Veit Schwämmle et al.   JOURNAL OF PROTEOME RESEARCH

Unknown

(2013) Carlo Rinaldi et al.   MOLECULAR MEDICINE

Silencing Mutant Ataxin-3 Rescues Motor Deficits and Neuropathology in Machado-Joseph Disease Transgenic Mice

(2013) Clévio Nóbrega et al.   PLoS One

Development of Cerebellar Neurons and Glias Revealed by in Utero Electroporation: Golgi-Like Labeling of Cerebellar Neurons and Glias

(2013) Yoshiaki Kita et al.   PLoS One

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

The GEM mapper: fast, accurate and versatile alignment by filtration

(2012) Santiago Marco-Sola et al.   NATURE METHODS

Fast Computation and Applications of Genome Mappability

(2012) Thomas Derrien et al.   PLoS One

Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities

(2012) Martin Breuss et al.   Cell Reports

GABAB-mediated rescue of altered excitatory–inhibitory balance, gamma synchrony and behavioral deficits following constitutive NMDAR-hypofunction

(2012) M J Gandal et al.   Translational Psychiatry

Peptide Labeling with Isobaric Tags Yields Higher Identification Rates Using iTRAQ 4-Plex Compared to TMT 6-Plex and iTRAQ 8-Plex on LTQ Orbitrap

(2010) Peter Pichler et al.   ANALYTICAL CHEMISTRY

The Role of Tuba1a in Adult Hippocampal Neurogenesis and the Formation of the Dentate Gyrus

(2010) David A. Keays et al.   DEVELOPMENTAL NEUROSCIENCE

Lysosome Dysfunction Triggers Atg7-dependent Neural Apoptosis

(2010) Ken C. Walls et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rubicon controls endosome maturation as a Rab7 effector

(2010) Q. Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Reelin Stabilizes the Actin Cytoskeleton of Neuronal Processes by Inducing n-Cofilin Phosphorylation at Serine3

(2009) X. Chai et al.   JOURNAL OF NEUROSCIENCE

Molecular layers underlying cytoskeletal remodelling during cortical development

(2009) Julian Ik-Tsen Heng et al.   TRENDS IN NEUROSCIENCES

Doublecortin (DCX) and doublecortin-like (DCL) are differentially expressed in the early but not late stages of murine neocortical development

(2008) Karin Boekhoorn et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Selection of Reference Genes for Quantitative Real-time RT-PCR Studies in Mouse Brain

(2008) Enrica Boda et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Nischarin Inhibits LIM Kinase To Regulate Cofilin Phosphorylation and Cell Invasion

(2008) Y. Ding et al.   MOLECULAR AND CELLULAR BIOLOGY

Multiple distinct subtypes of GABAergic neurons in mouse visual cortex identified by triple immunostaining

(2008) Yuri Gonchar   Frontiers in Neuroanatomy