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Brown, Robert

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overview	Identification of Gene Defects and Neuromuscular Disease Dr. Brown's laboratory has focused on the identification of gene defects that elucidate the molecular pathogenesis of selected neuromuscular diseases including amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease), muscular dystrophy, adrenoleukodystrophy, hereditary neuropathy and hyperkalemic periodic paralysis. Knowledge of theses disease genes has facilitated the creation of mouse and cell-based models of these disorders. In turn, these resources have allowed study of therapeutic strategies using conventional small molecule approaches and new modalities such as inhibitory RNAi.
Summary	Dr. Brown’s laboratory has focused on the identification of gene defects that elucidate the molecular pathogenesis of selected neuromuscular diseases including amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig’s disease), muscular dystrophy, adrenoleukodystrophy, hereditary neuropathy and hyperkalemic periodic paralysis.

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overview

Identification of Gene Defects and Neuromuscular Disease

Dr. Brown's laboratory has focused on the identification of gene defects that elucidate the molecular pathogenesis of selected neuromuscular diseases including amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease), muscular dystrophy, adrenoleukodystrophy, hereditary neuropathy and hyperkalemic periodic paralysis. Knowledge of theses disease genes has facilitated the creation of mouse and cell-based models of these disorders. In turn, these resources have allowed study of therapeutic strategies using conventional small molecule approaches and new modalities such as inhibitory RNAi.

Summary

Dr. Brown’s laboratory has focused on the identification of gene defects that elucidate the molecular pathogenesis of selected neuromuscular diseases including amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig’s disease), muscular dystrophy, adrenoleukodystrophy, hereditary neuropathy and hyperkalemic periodic paralysis.

One or more keywords matched the following items that are connected to Brown, Robert

Item Type	Name
Academic Article	Comparison of incremental with multipoint MUNE methods in transgenic ALS mice.
Academic Article	Decreased metallation and activity in subsets of mutant superoxide dismutases associated with familial amyotrophic lateral sclerosis.
Academic Article	Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis.
Academic Article	Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.
Academic Article	RNA interference-mediated silencing of mutant superoxide dismutase rescues cyclosporin A-induced death in cultured neuroblastoma cells.
Academic Article	Amyotrophic lateral sclerosis-associated SOD1 mutant proteins bind and aggregate with Bcl-2 in spinal cord mitochondria.
Academic Article	Sodium phenylbutyrate prolongs survival and regulates expression of anti-apoptotic genes in transgenic amyotrophic lateral sclerosis mice.
Academic Article	No association of DYNC1H1 with sporadic ALS in a case-control study of a northern European derived population: a tagging SNP approach.
Academic Article	Caspase-3 cleaves and inactivates the glutamate transporter EAAT2.
Academic Article	Case records of the Massachusetts General Hospital. Case 22-2006--a 77-year-old man with a rapidly progressive gait disorder.
Academic Article	Motor unit number estimation predicts disease onset and survival in a transgenic mouse model of amyotrophic lateral sclerosis.
Academic Article	Two approaches to drug discovery in SOD1-mediated ALS.
Academic Article	Increased affinity for copper mediated by cysteine 111 in forms of mutant superoxide dismutase 1 linked to amyotrophic lateral sclerosis.
Academic Article	Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality.
Academic Article	Birth order and the genetics of amyotrophic lateral sclerosis.
Academic Article	Ro5-4864 promotes neonatal motor neuron survival and nerve regeneration in adult rats.
Academic Article	Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS.
Academic Article	A common haplotype within the PON1 promoter region is associated with sporadic ALS.
Academic Article	Developmental biology. Neuron research leaps ahead.
Academic Article	Neonatal neuronal circuitry shows hyperexcitable disturbance in a mouse model of the adult-onset neurodegenerative disease amyotrophic lateral sclerosis.
Academic Article	T lymphocytes potentiate endogenous neuroprotective inflammation in a mouse model of ALS.
Academic Article	Serum ferritin and metal levels as risk factors for amyotrophic lateral sclerosis.
Academic Article	XBP-1 deficiency in the nervous system protects against amyotrophic lateral sclerosis by increasing autophagy.
Academic Article	A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q.
Academic Article	Medicine. A reinnervating microRNA.
Academic Article	ALS-linked mutant SOD1 damages mitochondria by promoting conformational changes in Bcl-2.
Academic Article	Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions.
Academic Article	Paraoxonase gene mutations in amyotrophic lateral sclerosis.
Academic Article	Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study.
Academic Article	Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS.
Academic Article	Corticospinal motor neurons and related subcerebral projection neurons undergo early and specific neurodegeneration in hSOD1G??A transgenic ALS mice.
Academic Article	A yeast model of FUS/TLS-dependent cytotoxicity.
Academic Article	Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.
Academic Article	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
Academic Article	Mutant dynactin in motor neuron disease.
Academic Article	Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis.
Academic Article	Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis.
Academic Article	An intersubunit disulfide bond prevents in vitro aggregation of a superoxide dismutase-1 mutant linked to familial amytrophic lateral sclerosis.
Academic Article	Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis.
Academic Article	Small-molecule-mediated stabilization of familial amyotrophic lateral sclerosis-linked superoxide dismutase mutants against unfolding and aggregation.
Academic Article	Amyotrophic lateral sclerosis--a new role for old drugs.
Academic Article	Variants in candidate ALS modifier genes linked to Cu/Zn superoxide dismutase do not explain divergent survival phenotypes.
Academic Article	Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery.
Academic Article	Arimoclomol at dosages up to 300 mg/day is well tolerated and safe in amyotrophic lateral sclerosis.
Academic Article	50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis.
Academic Article	Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration.
Academic Article	Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.
Academic Article	DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS.
Academic Article	Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.
Academic Article	The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci.
Academic Article	RNA metabolism and the pathogenesis of motor neuron diseases.
Academic Article	Vanadium, aluminum, magnesium and manganese are not elevated in hair samples in amyotrophic lateral sclerosis.
Academic Article	A large genome scan for rare CNVs in amyotrophic lateral sclerosis.
Academic Article	Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules.
Academic Article	Anti-superoxide dismutase antibodies are associated with survival in patients with sporadic amyotrophic lateral sclerosis.
Academic Article	Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS.
Academic Article	Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.
Academic Article	Inhibition of fast axonal transport by pathogenic SOD1 involves activation of p38 MAP kinase.
Concept	Motor Neuron Disease
Concept	Amyotrophic Lateral Sclerosis
Academic Article	Amyotrophic lateral sclerosis: Problems and prospects.
Academic Article	Widespread spinal cord transduction by intrathecal injection of rAAV delivers efficacious RNAi therapy for amyotrophic lateral sclerosis.
Academic Article	ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.
Academic Article	No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.
Academic Article	ATF3 expression improves motor function in the ALS mouse model by promoting motor neuron survival and retaining muscle innervation.
Academic Article	Partial loss of TDP-43 function causes phenotypes of amyotrophic lateral sclerosis.
Academic Article	Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1.
Academic Article	Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS.
Academic Article	Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.
Academic Article	The distinct genetic pattern of ALS in Turkey and novel mutations.
Academic Article	Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients.
Academic Article	Age-Dependent TDP-43-Mediated Motor Neuron Degeneration Requires GSK3, hat-trick, and xmas-2.
Academic Article	Endogenous retroviruses in ALS: A reawakening?
Academic Article	Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
Academic Article	Amyotrophic Lateral Sclerosis: Review.
Academic Article	Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice.
Academic Article	Therapeutic rAAVrh10 Mediated SOD1 Silencing in Adult SOD1(G93A) Mice and Nonhuman Primates.
Academic Article	ALS-linked protein disulfide isomerase variants cause motor dysfunction.
Academic Article	Adeno-associated virus-delivered artificial microRNA extends survival and delays paralysis in an amyotrophic lateral sclerosis mouse model.
Academic Article	CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.
Academic Article	A randomized trial of mexiletine in ALS: Safety and effects on muscle cramps and progression.
Academic Article	Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.
Academic Article	NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.
Academic Article	Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.
Academic Article	Mutant PFN1 causes ALS phenotypes and progressive motor neuron degeneration in mice by a gain of toxicity.
Academic Article	Metabolomic analysis and signatures in motor neuron disease.
Academic Article	Mutant Profilin1 transgenic mice recapitulate cardinal features of motor neuron disease.
Academic Article	Further analysis of KIFAP3 gene in ALS patients from Switzerland and Sweden.
Academic Article	Restrictive Lung Disease in the Cu/Zn Superoxide-Dismutase 1 G93A Amyotrophic Lateral Sclerosis Mouse Model.
Academic Article	Genetics of Amyotrophic Lateral Sclerosis.
Academic Article	Silencing strategies for therapy of SOD1-mediated ALS.
Academic Article	Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis.
Academic Article	A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD.
Academic Article	TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD.
Academic Article	Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Academic Article	Defective daily temperature regulation in a mouse model of amyotrophic lateral sclerosis.
Academic Article	Endoplasmic reticulum stress leads to accumulation of wild-type SOD1 aggregates associated with sporadic amyotrophic lateral sclerosis.
Academic Article	Loss of Sarm1 does not suppress motor neuron degeneration in the SOD1G93A mouse model of amyotrophic lateral sclerosis.
Academic Article	An open label study of a novel immunosuppression intervention for the treatment of amyotrophic lateral sclerosis.
Academic Article	ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.
Academic Article	Finding a Treatment for ALS - Will Gene Editing Cut It?
Academic Article	Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.
Academic Article	Amyotrophic Lateral Sclerosis.
Academic Article	A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS.
Academic Article	Modulation of actin polymerization affects nucleocytoplasmic transport in multiple forms of amyotrophic lateral sclerosis.
Academic Article	Prospective natural history study of C9orf72 ALS clinical characteristics and biomarkers.
Academic Article	NurOwn, phase 2, randomized, clinical trial in patients with ALS: Safety, clinical, and biomarker results.
Academic Article	Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology.
Academic Article	Longitudinal biomarkers in amyotrophic lateral sclerosis.
Academic Article	SOD1 Suppression with Adeno-Associated Virus and MicroRNA in Familial ALS.
Academic Article	Amyotrophic Lateral Sclerosis: Fuel for the Corticofugal Feud.
Academic Article	Variant-selective stereopure oligonucleotides protect against pathologies associated with C9orf72-repeat expansion in preclinical models.
Academic Article	Single breath counting is an effective screening tool for forced vital capacity in ALS.
Academic Article	Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Academic Article	Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Academic Article	A randomized placebo-controlled phase 3 study of mesenchymal stem cells induced to secrete high levels of neurotrophic factors in amyotrophic lateral sclerosis.
Academic Article	Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
Academic Article	Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
Academic Article	Imaging Net Retrograde Axonal Transport In Vivo: A Physiological Biomarker.
Academic Article	Excessive release of inorganic polyphosphate by ALS/FTD astrocytes causes non-cell-autonomous toxicity to motoneurons.
Academic Article	Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3'UTR protect against ALS.
Academic Article	Poly(GR) and poly(GA) in cerebrospinal fluid as potential biomarkers for C9ORF72-ALS/FTD.
Academic Article	CRISPR/Cas9-mediated excision of ALS/FTD-causing hexanucleotide repeat expansion in C9ORF72 rescues major disease mechanisms in vivo and in vitro.
Academic Article	Approaches to Gene Modulation Therapy for ALS.
Academic Article	Anti-SOD1 Nanobodies That Stabilize Misfolded SOD1 Proteins Also Promote Neurite Outgrowth in Mutant SOD1 Human Neurons.
Academic Article	Repeated mild traumatic brain injury triggers pathology in asymptomatic C9ORF72 transgenic mice.
Academic Article	Artificial microRNA suppresses C9ORF72 variants and decreases toxic dipeptide repeat proteins in vivo.
Academic Article	Loss of TDP-43 function contributes to genomic instability in amyotrophic lateral sclerosis.
Academic Article	Amyotrophic lateral sclerosis.
Academic Article	PAD2 dysregulation and aberrant protein citrullination feature prominently in reactive astrogliosis and myelin protein aggregation in sporadic ALS.
Academic Article	Debamestrocel multimodal effects on biomarker pathways in amyotrophic lateral sclerosis are linked to clinical outcomes.
Academic Article	Corrigendum: XBP-1 deficiency in the nervous system protects against amyotrophic lateral sclerosis by increasing autophagy.
Academic Article	Genetic Ablation of Sarm1 Mitigates Disease Acceleration after Traumatic Brain Injury in the SOD1G93A Transgenic Mouse Model of Amyotrophic Lateral Sclerosis.

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Motor Neuron Disease