Selective Activation of CNS and Reference PPARGC1A Promoters Is Associated with Distinct Gene Programs Relevant for Neurodegenerative Diseases

The multiplex model of the genetics of Alzheimer’s disease

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Presynaptic APP levels and synaptic homeostasis are regulated by Akt phosphorylation of Huntingtin

(2020) Julie Bruyère et al.   eLife

Huntingtin-Lowering Therapies for Huntington Disease

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Dysfunction of parvalbumin neurons in the cerebellar nuclei produces an action tremor

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The STRING database in 2021: customizable protein–protein networks, and functional characterization of user-uploaded gene/measurement sets

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Mitochondria, OxPhos, and neurodegeneration: cells are not just running out of gas

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Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk

(2019) Iris E. Jansen et al.   NATURE GENETICS

ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair

(2019) Joseph R. Klim et al.   NATURE NEUROSCIENCE

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration

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Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

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An Evolutionarily Conserved uORF Regulates PGC1α and Oxidative Metabolism in Mice, Flies, and Bluefin Tuna

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Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer’s disease

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RNA Granules Hitchhike on Lysosomes for Long-Distance Transport, Using Annexin A11 as a Molecular Tether

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The Expression of CNS-Specific PPARGC1A Transcripts Is Regulated by Hypoxia and a Variable GT Repeat Polymorphism

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The landscape of multiscale transcriptomic networks and key regulators in Parkinson’s disease

(2019) Qian Wang et al.   Nature Communications

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

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ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?

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Genetic risk factors in Parkinson’s disease

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Protein-protein interactions reveal key canonical pathways, upstream regulators, interactome domains, and novel targets in ALS

(2018) Ina Dervishi et al.   Scientific Reports

The PPARGC1A locus and CNS-specific PGC-1α isoforms are associated with Parkinson's Disease

(2018) Selma M. Soyal et al.   NEUROBIOLOGY OF DISEASE

The Gene Ontology Resource: 20 years and still GOing strong

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Cardiac nuclear receptors: architects of mitochondrial structure and function

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Nuclear speckles: molecular organization, biological function and role in disease

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Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

(2017) Bradley N. Smith et al.   Science Translational Medicine

Genome-wide association study in essential tremor identifies three new loci

(2016) Stefanie H. Müller et al.   BRAIN

On the Dependency of Cellular Protein Levels on mRNA Abundance

(2016) Yansheng Liu et al.   CELL

Mitochondrial biogenesis is required for axonal growth

(2016) Annika Vaarmann et al.   DEVELOPMENT

Peroxisome Proliferator-activated Receptor γ Coactivator-1 α Isoforms Selectively Regulate Multiple Splicing Events on Target Genes

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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

(2016) Wouter van Rheenen et al.   NATURE GENETICS

The Biology of Huntingtin

(2016) Frédéric Saudou et al.   NEURON

Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review

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PPARγ-coactivator-1α gene transfer reduces neuronal loss and amyloid-β generation by reducing β-secretase in an Alzheimer’s disease model

(2016) Loukia Katsouri et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Regulatory consequences of neuronal ELAV-like protein binding to coding and non-coding RNAs in human brain

(2016) Claudia Scheckel et al.   eLife

Genome-wide association study of schizophrenia in Ashkenazi Jews

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Quantitative visualization of alternative exon expression from RNA-seq data

(2015) Yarden Katz et al.   BIOINFORMATICS

Genome-wide Meta-analysis on the Sense of Smell Among US Older Adults

(2015) Jing Dong et al.   MEDICINE

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

(2015) Silvana Konermann et al.   NATURE

Orchestrating high-throughput genomic analysis with Bioconductor

(2015) Wolfgang Huber et al.   NATURE METHODS

Highly efficient Cas9-mediated transcriptional programming

(2015) Alejandro Chavez et al.   NATURE METHODS

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

(2015) Sarah E. Calvo et al.   NUCLEIC ACIDS RESEARCH

Systems genomics evaluation of the SH-SY5Y neuroblastoma cell line as a model for Parkinson’s disease

(2015) Abhimanyu Krishna et al.   BMC GENOMICS

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

A single nucleotide polymorphism in the coding region of PGC-1α is a male-specific modifier of Huntington disease age-at-onset in a large European cohort

(2014) Patrick Weydt et al.   BMC Neurology

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

(2014) Luke A. Gilbert et al.   CELL

Hypoxic Induction of Vascular Endothelial Growth Factor (VEGF) and Angiogenesis in Muscle by Truncated Peroxisome Proliferator-activated Receptor γ Coactivator (PGC)-1α

(2014) Robyn Thom et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

PGC-1  Provides a Transcriptional Framework for Synchronous Neurotransmitter Release from Parvalbumin-Positive Interneurons

(2014) E. K. Lucas et al.   JOURNAL OF NEUROSCIENCE

Rational design of highly active sgRNAs for CRISPR-Cas9–mediated gene inactivation

(2014) John G Doench et al.   NATURE BIOTECHNOLOGY

Huntington disease: natural history, biomarkers and prospects for therapeutics

(2014) Christopher A. Ross et al.   Nature Reviews Neurology

Astroglial PGC-1alpha increases mitochondrial antioxidant capacity and suppresses inflammation: implications for multiple sclerosis

(2014) Philip G Nijland et al.   Acta Neuropathologica Communications

featureCounts: an efficient general purpose program for assigning sequence reads to genomic features

(2013) Y. Liao et al.   BIOINFORMATICS

Causal analysis approaches in Ingenuity Pathway Analysis

(2013) Andreas Krämer et al.   BIOINFORMATICS

PGC-1  is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis

(2013) J. Eschbach et al.   HUMAN MOLECULAR GENETICS

DNA targeting specificity of RNA-guided Cas9 nucleases

(2013) Patrick D Hsu et al.   NATURE BIOTECHNOLOGY

Alternative splicing: a pivotal step between eukaryotic transcription and translation

(2013) Alberto R. Kornblihtt et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Amyotrophic lateral sclerosis—a model of corticofugal axonal spread

(2013) Heiko Braak et al.   Nature Reviews Neurology

Drift and conservation of differential exon usage across tissues in primate species

(2013) A. Reyes et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Reduced expression of PGC-1α partly underlies mitochondrial changes and correlates with neuronal loss in multiple sclerosis cortex

(2012) Maarten E. Witte et al.   ACTA NEUROPATHOLOGICA

Potential Role of Upstream Stimulatory Factor 1 Gene Variant in Familial Combined Hyperlipidemia and Related Disorders

(2012) Simon Auer et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

A PGC-1α Isoform Induced by Resistance Training Regulates Skeletal Muscle Hypertrophy

(2012) Jorge L. Ruas et al.   CELL

Elevated PGC-1α Activity Sustains Mitochondrial Biogenesis and Muscle Function without Extending Survival in a Mouse Model of Inherited ALS

(2012) Sandrine Da Cruz et al.   Cell Metabolism

Detecting differential usage of exons from RNA-seq data

(2012) S. Anders et al.   GENOME RESEARCH

A greatly extended PPARGC1A genomic locus encodes several new brain-specific isoforms and influences Huntington disease age of onset†

(2012) Selma M. Soyal et al.   HUMAN MOLECULAR GENETICS

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2012) E. Rubino et al.   NEUROLOGY

Differential expression analysis of multifactor RNA-Seq experiments with respect to biological variation

(2012) Davis J. McCarthy et al.   NUCLEIC ACIDS RESEARCH

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

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SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome

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Association of PGC-1alphapolymorphisms with age of onset and risk of Parkinson's disease

(2011) Joanne Clark et al.   BMC Medical Genetics

PARIS (ZNF746) Repression of PGC-1α Contributes to Neurodegeneration in Parkinson's Disease

(2011) Joo-Ho Shin et al.   CELL

Characterization of Novel Peroxisome Proliferator-activated Receptor γ Coactivator-1α (PGC-1α) Isoform in Human Liver

(2011) Thomas K. Felder et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Peroxisome proliferator activator receptor gamma coactivator-1alpha (PGC-1α) improves motor performance and survival in a mouse model of amyotrophic lateral sclerosis

(2011) Wei Zhao et al.   Molecular Neurodegeneration

Localization of sequence variations in PGC-1α influence their modifying effect in Huntington disease

(2011) Hong Van B Che et al.   Molecular Neurodegeneration

PGC-1α protects neurons and alters disease progression in an amyotrophic lateral sclerosis mouse model

(2011) Huiyun Liang et al.   MUSCLE & NERVE

Skeletal Muscle-Specific Expression of PGC-1α-b, an Exercise-Responsive Isoform, Increases Exercise Capacity and Peak Oxygen Uptake

(2011) Miki Tadaishi et al.   PLoS One

Expansion of the eukaryotic proteome by alternative splicing

(2010) Timothy W. Nilsen et al.   NATURE

Analysis and design of RNA sequencing experiments for identifying isoform regulation

(2010) Yarden Katz et al.   NATURE METHODS

PGC-1 , A Potential Therapeutic Target for Early Intervention in Parkinson's Disease

(2010) B. Zheng et al.   Science Translational Medicine

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

(2009) M. D. Robinson et al.   BIOINFORMATICS

TDP-43 Redistribution is an Early Event in Sporadic Amyotrophic Lateral Sclerosis

(2009) Maria Teresa Giordana et al.   BRAIN PATHOLOGY

Alternative mRNA Splicing Produces a Novel Biologically Active Short Isoform of PGC-1α

(2009) Yubin Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Isoform-Specific Increases in Murine Skeletal Muscle Peroxisome Proliferator-Activated Receptor-γ Coactivator-1α (PGC-1α) mRNA in Response to β2-Adrenergic Receptor Activation and Exercise

(2008) Shinji Miura et al.   ENDOCRINOLOGY

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE