UNC13Ain amyotrophic lateral sclerosis: from genetic association to therapeutic target

New antisense oligonucleotide therapies reach first base in ALS

(2022) Elia R. Lopez et al.   NATURE MEDICINE

Munc13 structural transitions and oligomers that may choreograph successive stages in vesicle priming for neurotransmitter release

(2022) Kirill Grushin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

(2022) Anna-Leigh Brown et al.   NATURE

TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A

(2022) X. Rosa Ma et al.   NATURE

Progress in Amyotrophic Lateral Sclerosis Gene Discovery

(2022) Samuel N. Smukowski et al.   Neurology-Genetics

Searching Far and Genome-Wide: The Relevance of Association Studies in Amyotrophic Lateral Sclerosis

(2021) Kelly A. Rich et al.   Frontiers in Neuroscience

Triad of TDP43 control in neurodegeneration: autoregulation, localization and aggregation

(2021) Paraskevi Tziortzouda et al.   NATURE REVIEWS NEUROSCIENCE

Advances in the genetic classification of amyotrophic lateral sclerosis

(2021) Johnathan Cooper-Knock et al.   CURRENT OPINION IN NEUROLOGY

Promise of Nucleic Acid Therapeutics for Amyotrophic Lateral Sclerosis

(2021) Daisuke Ito   ANNALS OF NEUROLOGY

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

(2021) Wouter van Rheenen et al.   NATURE GENETICS

An active vesicle priming machinery suppresses axon regeneration upon adult CNS injury

(2021) Brett J. Hilton et al.   NEURON

Munc13-1 is a Ca2+-phospholipid-dependent vesicle priming hub that shapes synaptic short-term plasticity and enables sustained neurotransmission

(2021) Noa Lipstein et al.   NEURON

ALS is a multistep process in South Korean, Japanese, and Australian patients

(2020) Steve Vucic et al.   NEUROLOGY

Re‐examining how Munc13‐1 facilitates opening of syntaxin‐1

(2020) Magdalena Magdziarek et al.   PROTEIN SCIENCE

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis

(2020) Harold H. G. Tan et al.   ANNALS OF NEUROLOGY

Amyotrophic lateral sclerosis associated mislocalisation of TDP‐43 to the cytoplasm causes cortical hyperexcitability and reduced excitatory neurotransmission in the motor cortex

(2020) MS. Dyer et al.   JOURNAL OF NEUROCHEMISTRY

Long‐Term Survival of Participants in the CENTAUR Trial of Sodium Phenylbutyrate‐Taurursodiol in ALS

(2020) Sabrina Paganoni et al.   MUSCLE & NERVE

Improving clinical trial outcomes in amyotrophic lateral sclerosis

(2020) Matthew C. Kiernan et al.   Nature Reviews Neurology

Munc18 and Munc13 serve as a functional template to orchestrate neuronal SNARE complex assembly

(2019) Shen Wang et al.   Nature Communications

Molecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis

(2019) Archana Prasad et al.   Frontiers in Molecular Neuroscience

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

(2019) Cyril Pottier et al.   ACTA NEUROPATHOLOGICA

Benefits and limitations of genome-wide association studies

(2019) Vivian Tam et al.   NATURE REVIEWS GENETICS

Consolidation alters motor sequence-specific distributed representations

(2019) Basile Pinsard et al.   eLife

Munc13 Is a Molecular Target of Bryostatin 1

(2019) Francisco A. Blanco et al.   BIOCHEMISTRY

UNC13A variant rs12608932 is associated with increased risk of amyotrophic lateral sclerosis and reduced patient survival: a meta-analysis

(2019) Baiyuan Yang et al.   NEUROLOGICAL SCIENCES

Lifetime Risk and Heritability of Amyotrophic Lateral Sclerosis

(2019) Marie Ryan et al.   JAMA Neurology

Alternative Splicing of ALS Genes: Misregulation and Potential Therapies

(2019) Benedetta Perrone et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

Unc13: a multifunctional synaptic marvel

(2019) Jeremy S Dittman   CURRENT OPINION IN NEUROBIOLOGY

MicroRNA expression profiles of neuron-derived extracellular vesicles in plasma from patients with amyotrophic lateral sclerosis

(2019) Masataka Katsu et al.   NEUROSCIENCE LETTERS

Pharmacogenetic interactions in amyotrophic lateral sclerosis: a step closer to a cure?

(2019) Ruben P. A. van Eijk et al.   PHARMACOGENOMICS JOURNAL

Molecular Mechanisms Linking ALS/FTD and Psychiatric Disorders, the Potential Effects of Lithium

(2019) Fiona Limanaqi et al.   Frontiers in Cellular Neuroscience

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

Layer- and Cell Type-Specific Modulation of Excitatory Neuronal Activity in the Neocortex

(2018) Gabriele Radnikow et al.   Frontiers in Neuroanatomy

Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum

(2018) Celeste M. Karch et al.   JAMA Neurology

UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis

(2018) Katerina Placek et al.   NEUROBIOLOGY OF AGING

Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder

(2017) Noa Lipstein et al.   JOURNAL OF CLINICAL INVESTIGATION

Amyotrophic lateral sclerosis

(2017) Michael A van Es et al.   LANCET

Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial

(2017) Koji Abe et al.   LANCET NEUROLOGY

Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

(2017) Ruben P.A. van Eijk et al.   NEUROLOGY

Stable Positioning of Unc13 Restricts Synaptic Vesicle Fusion to Defined Release Sites to Promote Synchronous Neurotransmission

(2017) Suneel Reddy-Alla et al.   NEURON

Molecular Mechanisms of Synaptic Vesicle Priming by Munc13 and Munc18

(2017) Ying Lai et al.   NEURON

Enhanced Bulbar Function in Amyotrophic Lateral Sclerosis: The Nuedexta Treatment Trial

(2017) Richard Smith et al.   Neurotherapeutics

Heterodimerization of Munc13 C2A domain with RIM regulates synaptic vesicle docking and priming

(2017) Marcial Camacho et al.   Nature Communications

Munc13-1 and Munc18-1 together prevent NSF-dependent de-priming of synaptic vesicles

(2017) Enqi He et al.   Nature Communications

Massive transcriptome sequencing of human spinal cord tissues provides new insights into motor neuron degeneration in ALS

(2017) Anna Maria D’Erchia et al.   Scientific Reports

The frontotemporal syndrome of ALS is associated with poor survival

(2016) Rosanne Govaarts et al.   JOURNAL OF NEUROLOGY

Distinct Functions of Syntaxin-1 in Neuronal Maintenance, Synaptic Vesicle Docking, and Fusion in Mouse Neurons

(2016) Gülçin Vardar et al.   JOURNAL OF NEUROSCIENCE

The frontotemporal dementia-motor neuron disease continuum

(2016) James R Burrell et al.   LANCET

Amyotrophic lateral sclerosis: moving towards a new classification system

(2016) Ammar Al-Chalabi et al.   LANCET NEUROLOGY

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

(2016) Wouter van Rheenen et al.   NATURE GENETICS

UNC13A confers risk for sporadic ALS and influences survival in a Spanish cohort

(2015) Jose Manuel Vidal-Taboada et al.   JOURNAL OF NEUROLOGY

TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD

(2015) J. P. Ling et al.   SCIENCE

Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability

(2015) Anna-Claire Devlin et al.   Nature Communications

Ventromedial hypothalamic neurons control a defensive emotion state

(2015) Prabhat S Kunwar et al.   eLife

Neuroprotective Effects of Lithium: Implications for the Treatment of Alzheimer’s Disease and Related Neurodegenerative Disorders

(2014) O. V. Forlenza et al.   ACS Chemical Neuroscience

C9orf72andUNC13Aare shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome-wide meta-analysis

(2014) Frank P. Diekstra et al.   ANNALS OF NEUROLOGY

Frontotemporal dementia and its subtypes: a genome-wide association study

(2014) Raffaele Ferrari et al.   LANCET NEUROLOGY

Association analysis of four candidate genetic variants with sporadic amyotrophic lateral sclerosis in a Chinese population

(2014) Xueping Chen et al.   NEUROLOGICAL SCIENCES

Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes

(2013) Danielle C. Diaper et al.   HUMAN MOLECULAR GENETICS

The final chapter of the ALS lithium saga

(2013) Adriano Chiò et al.   LANCET NEUROLOGY

Lithium in patients with amyotrophic lateral sclerosis (LiCALS): a phase 3 multicentre, randomised, double-blind, placebo-controlled trial

(2013)   LANCET NEUROLOGY

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

The epidemiology of ALS: a conspiracy of genes, environment and time

(2013) Ammar Al-Chalabi et al.   Nature Reviews Neurology

Neurotransmitter Release: The Last Millisecond in the Life of a Synaptic Vesicle

(2013) Thomas C. Südhof   NEURON

Five Years of GWAS Discovery

(2012) Peter M. Visscher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Munc13 controls the location and efficiency of dense-core vesicle release in neurons

(2012) Rhea van de Bospoort et al.   JOURNAL OF CELL BIOLOGY

Lithium lacks effect on survival in amyotrophic lateral sclerosis: a phase IIb randomised sequential trial

(2012) Esther Verstraete et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study

(2012) Adriano Chiò et al.   NEUROBIOLOGY OF AGING

Munc13-1 Is Required for Presynaptic Long-Term Potentiation

(2011) Y. Yang et al.   JOURNAL OF NEUROSCIENCE

Amyotrophic lateral sclerosis

(2011) Matthew C Kiernan et al.   LANCET

Munc13 mediates the transition from the closed syntaxin–Munc18 complex to the SNARE complex

(2011) Cong Ma et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians

(2011) Aritoshi Iida et al.   NEUROBIOLOGY OF AGING

UNC13A is a modifier of survival in amyotrophic lateral sclerosis

(2011) Frank P. Diekstra et al.   NEUROBIOLOGY OF AGING

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

(2010) Hannu Laaksovirta et al.   LANCET NEUROLOGY

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

(2010) Aleksey Shatunov et al.   LANCET NEUROLOGY

A common molecular basis for membrane docking and functional priming of synaptic vesicles

(2009) Léa Siksou et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Autophagy, lithium, and amyotrophic lateral sclerosis

(2009) Livia Pasquali et al.   MUSCLE & NERVE

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

(2009) Michael A van Es et al.   NATURE GENETICS

Lithium delays progression of amyotrophic lateral sclerosis

(2008) F. Fornai et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic Mapping in Human Disease

(2008) D. Altshuler et al.   SCIENCE