TFEB Links Autophagy to Lysosomal Biogenesis

Carmine Settembre, Chiara Di Malta, Vinicia Assunta Polito, +10

Science

A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB

Carmine Settembre, Roberto Zoncu, Diego L. Medina, +10

The EMBO Journal

ChromatinSignal TransductionCell SignalingNatural SciencesMolecular Biology +8

A large-scale evaluation of computational protein function prediction

Predrag Radivojac, Wyatt T. Clark, Tal Oron, +98

Nature Methods

Low Incidence of Off-Target Mutations in Individual CRISPR-Cas9 and TALEN Targeted Human Stem Cell Clones Detected by Whole-Genome Sequencing

Adrian Veres, Bridget S. Gosis, Qiurong Ding, +7

Cell stem cell

Off-target EffectEngineeringGeneticsOff-target MutationsGenetic Engineering +9

<i>CHD8</i> regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

Aarathi Sugathan, Marta Biagioli, Christelle Golzio, +14

Proceedings of the National Academy of Sciences

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

Ender Karaca, Tamar Harel, Davut Pehli̇van, +59

Neuron

Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

Ender Karaca, Stefan Weitzer, Davut Pehli̇van, +40

Cell

Affecting Both PeripheralKnockout MouseGenome InstabilityMolecular NeuroscienceGenetics +6

Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Tamar Harel, Wan Hee Yoon, Caterina Garone, +45

The American Journal of Human Genetics

Distinct Neurological SyndromesNeurodegenerative DiseasesRecurrent De NovoMitochondrial FunctionGenetics +8

Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families

Ian Blumenthal, Ashok Ragavendran, Serkan Erdin, +12

The American Journal of Human Genetics

Transcriptional RegulationTranscriptional ConsequencesDevelopmental BiologySyndromic AutismGenetics +10

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Natalie D. Shaw, Harrison Brand, Zachary A Kupchinsky, +75

Nature Genetics

Rare DiseasesSmchd1 MutationsMendelian DisorderGenetic DisorderGenetics +7