Genotype-Property Patient-Phenotype Relations Suggest that Proteome Exhaustion Can Cause Amyotrophic Lateral Sclerosis

Dysregulation of the proteasome increases the toxicity of ALS-linked mutant SOD1

(2014) Akira Kitamura et al.   GENES TO CELLS

Oral Treatment with CuII(atsm) Increases Mutant SOD1 In Vivo but Protects Motor Neurons and Improves the Phenotype of a Transgenic Mouse Model of Amyotrophic Lateral Sclerosis

(2014) B. R. Roberts et al.   JOURNAL OF NEUROSCIENCE

Computing Stability Effects of Mutations in Human Superoxide Dismutase 1

(2014) Kasper P. Kepp   JOURNAL OF PHYSICAL CHEMISTRY B

A Computational Model of Motor Neuron Degeneration

(2014) Gwendal Le Masson et al.   NEURON

A Model of Proteostatic Energy Cost and Its Use in Analysis of Proteome Trends and Sequence Evolution

(2014) Kasper P. Kepp et al.   PLoS One

Is SOD1 loss of function involved in amyotrophic lateral sclerosis?

(2013) Rachele A. Saccon et al.   BRAIN

Clinical and genetic heterogeneity of amyotrophic lateral sclerosis

(2013) M Sabatelli et al.   CLINICAL GENETICS

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

The changing scene of amyotrophic lateral sclerosis

(2013) Wim Robberecht et al.   NATURE REVIEWS NEUROSCIENCE

Identification of a novel missense (C7W) mutation of SOD1 in a large familial amyotrophic lateral sclerosis pedigree

(2013) Zhanjun Wang et al.   NEUROBIOLOGY OF AGING

A novel SOD1 mutation p.V31A identified with a slowly progressive form of amyotrophic lateral sclerosis

(2013) Audrey Dangoumau et al.   NEUROBIOLOGY OF AGING

The Effect of SOD1 Mutation on Cellular Bioenergetic Profile and Viability in Response to Oxidative Stress and Influence of Mutation-Type

(2013) Katie Richardson et al.   PLoS One

Familial amyotrophic lateral sclerosis in Alberta, Canada

(2013) Ted Pfister et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis

(2013) Magdalena Kuźma-Kozakiewicz et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: A United States clinical testing lab experience

(2012) Jeffrey A. Brown et al.   Amyotrophic Lateral Sclerosis

Bioinorganic Chemistry of Alzheimer’s Disease

(2012) Kasper P. Kepp   CHEMICAL REVIEWS

ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics

(2012) Olubunmi Abel et al.   HUMAN MUTATION

Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation

(2012) Amelia Conte et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mitochondrial Dynamics and Bioenergetic Dysfunction Is Associated with Synaptic Alterations in Mutant SOD1 Motor Neurons

(2012) J. Magrane et al.   JOURNAL OF NEUROSCIENCE

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

Metal imaging in neurodegenerative diseases

(2012) Megan W. Bourassa et al.   Metallomics

Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene

(2012) Rosanna Tortelli et al.   NEUROBIOLOGY OF AGING

TDP-43 Identified from a Genome Wide RNAi Screen for SOD1 Regulators

(2012) Balajee R. Somalinga et al.   PLoS One

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

Glutathionylation at Cys-111 Induces Dissociation of Wild Type and FALS Mutant SOD1 Dimers

(2011) Rachel L. Redler et al.   BIOCHEMISTRY

PoPMuSiC 2.1: a web server for the estimation of protein stability changes upon mutation and sequence optimality

(2011) Yves Dehouck et al.   BMC BIOINFORMATICS

Nutritional state, energy intakes and energy expenditure of amyotrophic lateral sclerosis (ALS) patients

(2011) L. Genton et al.   CLINICAL NUTRITION

Amyotrophic lateral sclerosis

(2011) Mamede de Carvalho et al.   CURRENT OPINION IN NEUROLOGY

Diacetylbis(N(4)-methylthiosemicarbazonato) Copper(II) (CuII(atsm)) Protects against Peroxynitrite-induced Nitrosative Damage and Prolongs Survival in Amyotrophic Lateral Sclerosis Mouse Model

(2011) Cynthia P. W. Soon et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structural and Thermodynamic Effects of Post-translational Modifications in Mutant and Wild Type Cu, Zn Superoxide Dismutase

(2011) Elizabeth A. Proctor et al.   JOURNAL OF MOLECULAR BIOLOGY

ALS-Causing SOD1 Mutations Promote Production of Copper-Deficient Misfolded Species

(2011) Philbert Ip et al.   JOURNAL OF MOLECULAR BIOLOGY

Amyotrophic lateral sclerosis

(2011) Matthew C Kiernan et al.   LANCET

The chemical process of oxidative stress by copper(II) and iron(III) ions in several neurodegenerative disorders

(2011) Yuzo Nishida   MONATSHEFTE FUR CHEMIE

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis

(2011) Laura Ferraiuolo et al.   Nature Reviews Neurology

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

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Decreased stability and increased formation of soluble aggregates by immature superoxide dismutase do not account for disease severity in ALS

(2011) K. A. Vassall et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

SOD1 Mutations Targeting Surface Hydrogen Bonds Promote Amyotrophic Lateral Sclerosis without Reducing Apo-state Stability

(2010) Roberth Byström et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Folding Catalysis by Transient Coordination of Zn2+to the Cu Ligands of the ALS-Associated Enzyme Cu/Zn Superoxide Dismutase 1

(2010) Lina Leinartaitė et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

SOD1 mRNA expression in sporadic amyotrophic lateral sclerosis

(2010) Stella Gagliardi et al.   NEUROBIOLOGY OF DISEASE

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Novel Antibodies Reveal Inclusions Containing Non-Native SOD1 in Sporadic ALS Patients

(2010) Karin Forsberg et al.   PLoS One

Mitochondrial dysfunction in amyotrophic lateral sclerosis

(2009) Ping Shi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Superoxide dismutases—a review of the metal-associated mechanistic variations

(2009) Isabel A. Abreu et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

The structural biochemistry of the superoxide dismutases

(2009) J.J.P. Perry et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Fast and accurate predictions of protein stability changes upon mutations using statistical potentials and neural networks: PoPMuSiC-2.0

(2009) Yves Dehouck et al.   BIOINFORMATICS

Stability effects of mutations and protein evolvability

(2009) Nobuhiko Tokuriki et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Variation in aggregation propensities among ALS-associated variants of SOD1: Correlation to human disease

(2009) Mercedes Prudencio et al.   HUMAN MOLECULAR GENETICS

Wild-type SOD1 overexpression accelerates disease onset of a G85R SOD1 mouse

(2009) L. Wang et al.   HUMAN MOLECULAR GENETICS

Hypermetabolism in ALS patients: an early and persistent phenomenon

(2009) C. Bouteloup et al.   JOURNAL OF NEUROLOGY

The evidence for altered RNA metabolism in amyotrophic lateral sclerosis (ALS)

(2009) Michael J. Strong   JOURNAL OF THE NEUROLOGICAL SCIENCES

Muscle Mitochondrial Uncoupling Dismantles Neuromuscular Junction and Triggers Distal Degeneration of Motor Neurons

(2009) Luc Dupuis et al.   PLoS One

Transient structural distortion of metal-free Cu/Zn superoxide dismutase triggers aberrant oligomerization

(2009) K. Teilum et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

Protein Aggregation and Protein Instability Govern Familial Amyotrophic Lateral Sclerosis Patient Survival

(2008) Qi Wang et al.   PLOS BIOLOGY