Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders

Multiple domain interfaces mediate SARM1 autoinhibition

(2021) Chen Shen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Small Molecule SARM1 Inhibitors Recapitulate the SARM1−/− Phenotype and Allow Recovery of a Metastable Pool of Axons Fated to Degenerate

(2021) Robert O. Hughes et al.   Cell Reports

SARM1 is a metabolic sensor activated by an increased NMN/NAD+ ratio to trigger axon degeneration

(2021) Matthew D. Figley et al.   NEURON

Pharmacological SARM1 inhibition protects axon structure and function in paclitaxel-induced peripheral neuropathy

(2021) Todd Bosanac et al.   BRAIN

Novel STMN2 Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype

(2021) Frances Theunissen et al.   Frontiers in Aging Neuroscience

Axon morphogenesis and maintenance require an evolutionary conserved safeguard function of Wnk kinases antagonizing Sarm and Axed

(2021) Azadeh Izadifar et al.   NEURON

Neurotoxin-mediated potent activation of the axon degeneration regulator SARM1

(2021) Andrea Loreto et al.   eLife

Using regulatory variants to detect gene–gene interactions identifies networks of genes linked to cell immortalisation

(2020) D. Wragg et al.   Nature Communications

Programmed axon degeneration: from mouse to mechanism to medicine

(2020) Michael P. Coleman et al.   NATURE REVIEWS NEUROSCIENCE

The SARM1 axon degeneration pathway: control of the NAD+ metabolome regulates axon survival in health and disease

(2020) Matthew D Figley et al.   CURRENT OPINION IN NEUROBIOLOGY

Structural and Mechanistic Regulation of the Pro-degenerative NAD Hydrolase SARM1

(2020) Matthew Bratkowski et al.   Cell Reports

SARM1 deficiency promotes rod and cone photoreceptor cell survival in a model of retinal degeneration

(2020) Ema Ozaki et al.   Life Science Alliance

The NAD+-mediated self-inhibition mechanism of pro-neurodegenerative Sarm1

(2020) Yuefeng Jiang et al.   NATURE

Gene therapy targeting SARM1 blocks pathological axon degeneration in mice

(2019) Stefanie Geisler et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2019) Ze’ev Melamed et al.   NATURE NEUROSCIENCE

Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence

(2019) Marshall Lukacs et al.   EXPERIMENTAL NEUROLOGY

Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia

(2019) Peter Huppke et al.   EXPERIMENTAL NEUROLOGY

Structural Evidence for an Octameric Ring Arrangement of SARM1

(2019) Michael Sporny et al.   JOURNAL OF MOLECULAR BIOLOGY

The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

(2019) Rick A.A. van der Spek et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

TIR domains of plant immune receptors are NAD+-cleaving enzymes that promote cell death

(2019) Li Wan et al.   SCIENCE

NAD+ cleavage activity by animal and plant TIR domains in cell death pathways

(2019) Shane Horsefield et al.   SCIENCE

Prion-Like Propagation of Protein Misfolding and Aggregation in Amyotrophic Lateral Sclerosis

(2019) Luke McAlary et al.   Frontiers in Molecular Neuroscience

Sarm1 deletion suppresses TDP-43-linked motor neuron degeneration and cortical spine loss

(2019) Matthew A. White et al.   Acta Neuropathologica Communications

TIR Domain Proteins Are an Ancient Family of NAD + -Consuming Enzymes

(2018) Kow Essuman et al.   CURRENT BIOLOGY

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

(2018)   EUROPEAN JOURNAL OF HUMAN GENETICS

Loss of Sarm1 does not suppress motor neuron degeneration in the SOD1G93A mouse model of amyotrophic lateral sclerosis

(2018) Owen M Peters et al.   HUMAN MOLECULAR GENETICS

How much of the missing heritability of ALS is hidden in known ALS genes?

(2018) Philip Van Damme   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Low levels of NMNAT2 compromise axon development and survival

(2018) Jonathan Gilley et al.   HUMAN MOLECULAR GENETICS

The SARM1 Toll/Interleukin-1 Receptor Domain Possesses Intrinsic NAD + Cleavage Activity that Promotes Pathological Axonal Degeneration

(2017) Kow Essuman et al.   NEURON

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

(2016) Wouter van Rheenen et al.   NATURE GENETICS

Axon Self-Destruction: New Links among SARM1, MAPKs, and NAD+ Metabolism

(2016) Josiah Gerdts et al.   NEURON

SARM1-specific motifs in the TIR domain enable NAD+loss and regulate injury-induced SARM1 activation

(2016) Daniel W. Summers et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform

(2015) Michael Gonzalez et al.   HUMAN MUTATION

Axonal transport declines with age in two distinct phases separated by a period of relative stability

(2015) Stefan Milde et al.   NEUROBIOLOGY OF AGING

SARM1 activation triggers axon degeneration locally via NAD+ destruction

(2015) J. Gerdts et al.   SCIENCE

Absence of SARM1 Rescues Development and Survival of NMNAT2-Deficient Axons

(2015) Jonathan Gilley et al.   Cell Reports

A rise in NAD precursor nicotinamide mononucleotide (NMN) after injury promotes axon degeneration

(2014) M Di Stefano et al.   CELL DEATH AND DIFFERENTIATION

Mitochondrial Dysfunction Induces Sarm1-Dependent Cell Death in Sensory Neurons

(2014) D. W. Summers et al.   JOURNAL OF NEUROSCIENCE

Wallerian degeneration: an emerging axon death pathway linking injury and disease

(2014) Laura Conforti et al.   NATURE REVIEWS NEUROSCIENCE

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

(2013) I. Fogh et al.   HUMAN MOLECULAR GENETICS

Sarm1-Mediated Axon Degeneration Requires Both SAM and TIR Interactions

(2013) J. Gerdts et al.   JOURNAL OF NEUROSCIENCE

Rescue of Peripheral and CNS Axon Defects in Mice Lacking NMNAT2

(2013) J. Gilley et al.   JOURNAL OF NEUROSCIENCE

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

(2012) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SCG10 is a JNK target in the axonal degeneration pathway

(2012) J. E. Shin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

dSarm/Sarm1 Is Required for Activation of an Injury-Induced Axon Death Pathway

(2012) J. M. Osterloh et al.   SCIENCE

Targeting of pro-apoptotic TLR adaptor SARM to mitochondria: definition of the critical region and residues in the signal sequence

(2011) Porkodi Panneerselvam et al.   BIOCHEMICAL JOURNAL

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4

(2011) Garth Nicholson et al.   BRAIN

Sarm1, a negative regulator of innate immunity, interacts with syndecan-2 and regulates neuronal morphology

(2011) Chiung-Ya Chen et al.   JOURNAL OF CELL BIOLOGY

The distal hereditary motor neuropathies

(2011) Alexander M Rossor et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation

(2010) Glenn Lopate et al.   Amyotrophic Lateral Sclerosis

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Endogenous Nmnat2 Is an Essential Survival Factor for Maintenance of Healthy Axons

(2010) Jonathan Gilley et al.   PLOS BIOLOGY

TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations

(2009) Satomi Maekawa et al.   NEUROPATHOLOGY