CRISPR-based functional genomics for neurological disease

Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders

(2020) Manon Boivin et al.   EMBO JOURNAL

A brief history of human disease genetics

(2020) Melina Claussnitzer et al.   NATURE

LRP1 is a master regulator of tau uptake and spread

(2020) Jennifer N. Rauch et al.   NATURE

Massively parallel Cas13 screens reveal principles for guide RNA design

(2020) Hans-Hermann Wessels et al.   NATURE BIOTECHNOLOGY

CRISPR-based screens uncover determinants of immunotherapy response in multiple myeloma

(2020) Poornima Ramkumar et al.   Blood Advances

A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens

(2019) Molly Gasperini et al.   CELL

Assembling human brain organoids

(2019) Sergiu P. Paşca   SCIENCE

Multiplexed detection of proteins, transcriptomes, clonotypes and CRISPR perturbations in single cells

(2019) Eleni P. Mimitou et al.   NATURE METHODS

Imaging-based pooled CRISPR screening reveals regulators of lncRNA localization

(2019) Chong Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Conserved cell types with divergent features in human versus mouse cortex

(2019) Rebecca D. Hodge et al.   NATURE

Synergistic effects of common schizophrenia risk variants

(2019) Nadine Schrode et al.   NATURE GENETICS

CRISPR Interference-Based Platform for Multimodal Genetic Screens in Human iPSC-Derived Neurons

(2019) Ruilin Tian et al.   NEURON

Exploring genetic interaction manifolds constructed from rich single-cell phenotypes

(2019) Thomas M. Norman et al.   SCIENCE

Optical Pooled Screens in Human Cells

(2019) David Feldman et al.   CELL

Compromised function of the ESCRT pathway promotes endolysosomal escape of tau seeds and propagation of tau aggregation

(2019) John J. Chen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Doublecortin like kinase 1 regulates α-Synuclein levels and toxicity

(2019) Gabriel E. Vázquez-Vélez et al.   JOURNAL OF NEUROSCIENCE

Search-and-replace genome editing without double-strand breaks or donor DNA

(2019) Andrew V. Anzalone et al.   NATURE

Brain cell type–specific enhancer–promoter interactome maps and disease-risk association

(2019) Alexi Nott et al.   SCIENCE

Genome-wide synthetic lethal CRISPR screen identifies FIS1 as a genetic interactor of ALS-linked C9ORF72

(2019) Noori Chai et al.   BRAIN RESEARCH

A Large Panel of Isogenic APP and PSEN1 Mutant Human iPSC Neurons Reveals Shared Endosomal Abnormalities Mediated by APP β-CTFs, Not Aβ

(2019) Dylan Kwart et al.   NEURON

CRISPR-Cas9 Screens Identify the RNA Helicase DDX3X as a Repressor of C9ORF72 (GGGGCC)n Repeat-Associated Non-AUG Translation

(2019) Weiwei Cheng et al.   NEURON

The Post-GWAS Era: From Association to Function

(2018) Michael D. Gallagher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Untangling Genetic Risk for Alzheimer’s Disease

(2018) Anna A. Pimenova et al.   BIOLOGICAL PSYCHIATRY

Transcriptome Engineering with RNA-Targeting Type VI-D CRISPR Effectors

(2018) Silvana Konermann et al.   CELL

Mapping the Genetic Landscape of Human Cells

(2018) Max A. Horlbeck et al.   CELL

Disease-Associated Microglia: A Universal Immune Sensor of Neurodegeneration

(2018) Aleksandra Deczkowska et al.   CELL

Specific glycosaminoglycan chain length and sulfation patterns are required for cell uptake of tauversusα-synuclein and β-amyloid aggregates

(2018) Barbara E. Stopschinski et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cas13d Is a Compact RNA-Targeting Type VI CRISPR Effector Positively Modulated by a WYL-Domain-Containing Accessory Protein

(2018) Winston X. Yan et al.   MOLECULAR CELL

Programmable RNA Cleavage and Recognition by a Natural CRISPR-Cas9 System from Neisseria meningitidis

(2018) Beth A. Rousseau et al.   MOLECULAR CELL

Dual gene activation and knockout screen reveals directional dependencies in genetic networks

(2018) Michael Boettcher et al.   NATURE BIOTECHNOLOGY

CRISPR–Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity

(2018) Nicholas J. Kramer et al.   NATURE GENETICS

Gain of toxic apolipoprotein E4 effects in human iPSC-derived neurons is ameliorated by a small-molecule structure corrector

(2018) Chengzhong Wang et al.   NATURE MEDICINE

p53 inhibits CRISPR–Cas9 engineering in human pluripotent stem cells

(2018) Robert J. Ihry et al.   NATURE MEDICINE

A 3D human triculture system modeling neurodegeneration and neuroinflammation in Alzheimer’s disease

(2018) Joseph Park et al.   NATURE NEUROSCIENCE

APOE4 Causes Widespread Molecular and Cellular Alterations Associated with Alzheimer’s Disease Phenotypes in Human iPSC-Derived Brain Cell Types

(2018) Yuan-Ta Lin et al.   NEURON

Diverse Brain Myeloid Expression Profiles Reveal Distinct Microglial Activation States and Aspects of Alzheimer’s Disease Not Evident in Mouse Models

(2018) Brad A. Friedman et al.   Cell Reports

Mitochondrial Aging Defects Emerge in Directly Reprogrammed Human Neurons due to Their Metabolic Profile

(2018) Yongsung Kim et al.   Cell Reports

Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia

(2018) Philip W. Brownjohn et al.   Stem Cell Reports

A druggable genome screen identifies modifiers of α-synuclein levels via a tiered cross-species validation approach

(2018) Maxime W.C. Rousseaux et al.   JOURNAL OF NEUROSCIENCE

Diverse reprogramming codes for neuronal identity

(2018) Rachel Tsunemoto et al.   NATURE

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

Tau Internalization is Regulated by 6-O Sulfation on Heparan Sulfate Proteoglycans (HSPGs)

(2018) Jennifer N. Rauch et al.   Scientific Reports

Identification of phagocytosis regulators using magnetic genome-wide CRISPR screens

(2018) Michael S. Haney et al.   NATURE GENETICS

Combined CRISPRi/a-Based Chemical Genetic Screens Reveal that Rigosertib Is a Microtubule-Destabilizing Agent

(2017) Marco Jost et al.   MOLECULAR CELL

Neurotoxic reactive astrocytes are induced by activated microglia

(2017) Shane A. Liddelow et al.   NATURE

Pooled CRISPR screening with single-cell transcriptome readout

(2017) Paul Datlinger et al.   NATURE METHODS

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

(2017) Kuan-lin Huang et al.   NATURE NEUROSCIENCE

A Primer on Concepts and Applications of Proteomics in Neuroscience

(2017) Fabian Hosp et al.   NEURON

iPSC-Derived Human Microglia-like Cells to Study Neurological Diseases

(2017) Edsel M. Abud et al.   NEURON

Genome-wide CRISPR screen for PARKIN regulators reveals transcriptional repression as a determinant of mitophagy

(2017) Christoph Potting et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson’s disease

(2017) Lena F. Burbulla et al.   SCIENCE

An environment-dependent transcriptional network specifies human microglia identity

(2017) David Gosselin et al.   SCIENCE

A CRISPR Approach to Neurodegenerative Diseases

(2017) Martin Kampmann   TRENDS IN MOLECULAR MEDICINE

Complementary information derived from CRISPR Cas9 mediated gene deletion and suppression

(2017) Joseph Rosenbluh et al.   Nature Communications

Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience

(2017) Perry G. Ridge et al.   Genome Medicine

Scalable Production of iPSC-Derived Human Neurons to Identify Tau-Lowering Compounds by High-Content Screening

(2017) Chao Wang et al.   Stem Cell Reports

Molecular Diversity of Midbrain Development in Mouse, Human, and Stem Cells

(2016) Gioele La Manno et al.   CELL

Dissecting Immune Circuits by Linking CRISPR-Pooled Screens with Single-Cell RNA-Seq

(2016) Diego Adhemar Jaitin et al.   CELL

Perturb-Seq: Dissecting Molecular Circuits with Scalable Single-Cell RNA Profiling of Pooled Genetic Screens

(2016) Atray Dixit et al.   CELL

A Multiplexed Single-Cell CRISPR Screening Platform Enables Systematic Dissection of the Unfolded Protein Response

(2016) Britt Adamson et al.   CELL

TALEN-based generation of a cynomolgus monkey disease model for human microcephaly

(2016) Qiong Ke et al.   CELL RESEARCH

Generation of a Nonhuman Primate Model of Severe Combined Immunodeficiency Using Highly Efficient Genome Editing

(2016) Kenya Sato et al.   Cell Stem Cell

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage

(2016) Alexis C. Komor et al.   NATURE

Two distinct RNase activities of CRISPR-C2c2 enable guide-RNA processing and RNA detection

(2016) Alexandra East-Seletsky et al.   NATURE

Neuronal subtypes and diversity revealed by single-nucleus RNA sequencing of the human brain

(2016) B. B. Lake et al.   SCIENCE

C2c2 is a single-component programmable RNA-guided RNA-targeting CRISPR effector

(2016) Omar O. Abudayyeh et al.   SCIENCE

Generating Late-Onset Human iPSC-Based Disease Models by Inducing Neuronal Age-Related Phenotypes through Telomerase Manipulation

(2016) Elsa Vera et al.   Cell Reports

Directly Reprogrammed Human Neurons Retain Aging-Associated Transcriptomic Signatures and Reveal Age-Related Nucleocytoplasmic Defects

(2015) Jerome Mertens et al.   Cell Stem Cell

Functional disruption of the dystrophin gene in rhesus monkey using CRISPR/Cas9

(2015) Yongchang Chen et al.   HUMAN MOLECULAR GENETICS

BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis

(2015) Matthew C. Canver et al.   NATURE

Genome-scale transcriptional activation by an engineered CRISPR-Cas9 complex

(2015) Silvana Konermann et al.   NATURE

Epigenome editing by a CRISPR-Cas9-based acetyltransferase activates genes from promoters and enhancers

(2015) Isaac B Hilton et al.   NATURE BIOTECHNOLOGY

Functional annotation of native enhancers with a Cas9–histone demethylase fusion

(2015) Nicola A Kearns et al.   NATURE METHODS

Highly efficient Cas9-mediated transcriptional programming

(2015) Alejandro Chavez et al.   NATURE METHODS

Highly specific epigenome editing by CRISPR-Cas9 repressors for silencing of distal regulatory elements

(2015) Pratiksha I Thakore et al.   NATURE METHODS

Human pluripotent stem cell-derived neural constructs for predicting neural toxicity

(2015) Michael P. Schwartz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

UBA1: At the Crossroads of Ubiquitin Homeostasis and Neurodegeneration

(2015) Ewout J.N. Groen et al.   TRENDS IN MOLECULAR MEDICINE

Genome-Scale CRISPR-Mediated Control of Gene Repression and Activation

(2014) Luke A. Gilbert et al.   CELL

A Single Oncogenic Enhancer Rearrangement Causes Concomitant EVI1 and GATA2 Deregulation in Leukemia

(2014) Stefan Gröschel et al.   CELL

Generation of Gene-Modified Cynomolgus Monkey via Cas9/RNA-Mediated Gene Targeting in One-Cell Embryos

(2014) Yuyu Niu et al.   CELL

TALEN-Mediated Gene Mutagenesis in Rhesus and Cynomolgus Monkeys

(2014) Hailiang Liu et al.   Cell Stem Cell

High-throughput screening of a CRISPR/Cas9 library for functional genomics in human cells

(2014) Yuexin Zhou et al.   NATURE

Programmable RNA recognition and cleavage by CRISPR/Cas9

(2014) Mitchell R. O’Connell et al.   NATURE

Efficient in vivo deletion of a large imprinted lncRNA by CRISPR/Cas9

(2014) Jinxiong Han et al.   RNA Biology

Generation of iPSC lines from archived non-cryoprotected biobanked dura mater

(2014) Andrew A Sproul et al.   Acta Neuropathologica Communications

A Systematic Mammalian Genetic Interaction Map Reveals Pathways Underlying Ricin Susceptibility

(2013) Michael C. Bassik et al.   CELL

CRISPR-Mediated Modular RNA-Guided Regulation of Transcription in Eukaryotes

(2013) Luke A. Gilbert et al.   CELL

Human iPSC-Based Modeling of Late-Onset Disease via Progerin-Induced Aging

(2013) Justine D. Miller et al.   Cell Stem Cell

Modeling Alzheimer’s Disease with iPSCs Reveals Stress Phenotypes Associated with Intracellular Aβ and Differential Drug Responsiveness

(2013) Takayuki Kondo et al.   Cell Stem Cell

Cerebral organoids model human brain development and microcephaly

(2013) Madeline A. Lancaster et al.   NATURE

Genome-wide recessive genetic screening in mammalian cells with a lentiviral CRISPR-guide RNA library

(2013) Hiroko Koike-Yusa et al.   NATURE BIOTECHNOLOGY

RNA-guided gene activation by CRISPR-Cas9–based transcription factors

(2013) Pablo Perez-Pinera et al.   NATURE METHODS

CRISPR RNA–guided activation of endogenous human genes

(2013) Morgan L Maeder et al.   NATURE METHODS

Integrated platform for genome-wide screening and construction of high-density genetic interaction maps in mammalian cells

(2013) M. Kampmann et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

RNA-Guided Human Genome Engineering via Cas9

(2013) P. Mali et al.   SCIENCE

Genome-Scale CRISPR-Cas9 Knockout Screening in Human Cells

(2013) Ophir Shalem et al.   SCIENCE

Genetic Screens in Human Cells Using the CRISPR-Cas9 System

(2013) Tim Wang et al.   SCIENCE

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

Genetic Correction of Tauopathy Phenotypes in Neurons Derived from Human Induced Pluripotent Stem Cells

(2013) Helen Fong et al.   Stem Cell Reports

Probing sporadic and familial Alzheimer’s disease using induced pluripotent stem cells

(2012) Mason A. Israel et al.   NATURE

A Programmable Dual-RNA-Guided DNA Endonuclease in Adaptive Bacterial Immunity

(2012) M. Jinek et al.   SCIENCE

Generation of Isogenic Pluripotent Stem Cells Differing Exclusively at Two Early Onset Parkinson Point Mutations

(2011) Frank Soldner et al.   CELL

Constructing and Deconstructing Stem Cell Models of Neurological Disease

(2011) Steve S.W. Han et al.   NEURON

Direct conversion of fibroblasts to functional neurons by defined factors

(2010) Thomas Vierbuchen et al.   NATURE

TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers

(2010) N. Finch et al.   NEUROLOGY

RNA-Guided RNA Cleavage by a CRISPR RNA-Cas Protein Complex

(2009) Caryn R. Hale et al.   CELL

Generation of transgenic non-human primates with germline transmission

(2009) Erika Sasaki et al.   NATURE

Self-Organized Formation of Polarized Cortical Tissues from ESCs and Its Active Manipulation by Extrinsic Signals

(2008) Mototsugu Eiraku et al.   Cell Stem Cell

Mutant SOD1 in cell types other than motor neurons and oligodendrocytes accelerates onset of disease in ALS mice

(2008) K. Yamanaka et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA