Computational analysis of hereditary spastic paraplegia mutations in the kinesin motor domains of KIF1A and KIF5A

mCSM-PPI2: predicting the effects of mutations on protein–protein interactions

(2019) Carlos H M Rodrigues et al.   NUCLEIC ACIDS RESEARCH

The EMBL-EBI search and sequence analysis tools APIs in 2019

(2019) Fábio Madeira et al.   NUCLEIC ACIDS RESEARCH

The Pfam protein families database in 2019

(2018) Sara El-Gebali et al.   NUCLEIC ACIDS RESEARCH

Structural consequences of hereditary spastic paraplegia disease-related mutations in kinesin

(2018) Mandira Dutta et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Forces and Disease: Electrostatic force differences caused by mutations in kinesin motor domains can distinguish between disease-causing and non-disease-causing mutations

(2017) Lin Li et al.   Scientific Reports

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks

(2016) Paulo Victor Sgobbi de Souza et al.   CEREBELLUM

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

SAAMBE: Webserver to Predict the Charge of Binding Free Energy Caused by Amino Acids Mutations

(2016) Marharyta Petukh et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

SAAFEC: Predicting the Effect of Single Point Mutations on Protein Folding Free Energy Using a Knowledge-Modified MM/PBSA Approach

(2016) Ivan Getov et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Structure and Dynamics of Single-isoform Recombinant Neuronal Human Tubulin

(2016) Annapurna Vemu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

GPS-PAIL: prediction of lysine acetyltransferase-specific modification sites from protein sequences

(2016) Wankun Deng et al.   Scientific Reports

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

DANN: a deep learning approach for annotating the pathogenicity of genetic variants

(2014) Daniel Quang et al.   BIOINFORMATICS

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

(2014) Jae-Ran Lee et al.   HUMAN MUTATION

SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information

(2014) Marco Biasini et al.   NUCLEIC ACIDS RESEARCH

Integrating Multiple Genomic Data to Predict Disease-Causing Nonsynonymous Single Nucleotide Variants in Exome Sequencing Studies

(2014) Jiaxin Wu et al.   PLoS Genetics

Mutational effects on stability are largely conserved during protein evolution

(2013) O. Ashenberg et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Kinesin tail domains are intrinsically disordered

(2013) Mark A. Seeger et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

(2012) Stephan Klebe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Structural Basis of Force Generation by the Mitotic Motor Kinesin-5

(2012) Adeline Goulet et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

(2011) Rami Abou Jamra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2

(2011) C Crimella et al.   CLINICAL GENETICS

GPS-YNO2: computational prediction of tyrosine nitration sites in proteins

(2011) Zexian Liu et al.   Molecular BioSystems

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism

(2011) Arianna Guidubaldi et al.   MOVEMENT DISORDERS

Modeling Effects of Human Single Nucleotide Polymorphisms on Protein-Protein Interactions

(2009) Shaolei Teng et al.   BIOPHYSICAL JOURNAL

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Kinesin superfamily motor proteins and intracellular transport

(2009) Nobutaka Hirokawa et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Role of Axonal Transport in Neurodegenerative Diseases

(2008) Kurt J. De Vos et al.   Annual Review of Neuroscience

Axonal transport and the delivery of pre-synaptic components

(2008) Ann YN Goldstein et al.   CURRENT OPINION IN NEUROBIOLOGY

GPS 2.0, a Tool to Predict Kinase-specific Phosphorylation Sites in Hierarchy

(2008) Yu Xue et al.   MOLECULAR & CELLULAR PROTEOMICS

Intracellular Transport and Kinesin Superfamily Proteins, KIFs: Structure, Function, and Dynamics

(2008) Nobutaka Hirokawa et al.   PHYSIOLOGICAL REVIEWS