The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome

KIF1A ‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement

(2020) Tarishi Nemani et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

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

(2020) Konrad J. Karczewski et al.   NATURE

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A ( KIF1A )

(2020) Simranpreet Kaur et al.   HUMAN MUTATION

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

(2020) Vidhyanand Mahase et al.   JOURNAL OF THEORETICAL & COMPUTATIONAL CHEMISTRY

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

(2019) Maartje Pennings et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disease-associated mutations hyperactivate KIF1A motility and anterograde axonal transport of synaptic vesicle precursors

(2019) Kyoko Chiba et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Predicting the clinical impact of human mutation with deep neural networks

(2018) Laksshman Sundaram et al.   NATURE GENETICS

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

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

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

Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement

(2016) Leslie Hotchkiss et al.   JOURNAL OF CHILD NEUROLOGY

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Mapping the Processivity Determinants of the Kinesin-3 Motor Domain

(2015) Guido Scarabelli et al.   BIOPHYSICAL JOURNAL

Kinesin superfamily proteins (KIFs): Various functions and their relevance for important phenomena in life and diseases

(2015) Nobutaka Hirokawa et al.   EXPERIMENTAL CELL RESEARCH

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

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

Analyzing Effects of Naturally Occurring Missense Mutations

(2012) Zhe Zhang et al.   Computational and Mathematical Methods in Medicine

The CC1-FHA Tandem as a Central Hub for Controlling the Dimerization and Activation of Kinesin-3 KIF1A

(2012) Lin Huo et al.   STRUCTURE

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

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

(2010) Heng Li et al.   BIOINFORMATICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

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

Mammalian Kinesin-3 Motors Are Dimeric In Vivo and Move by Processive Motility upon Release of Autoinhibition

(2009) Jennetta W Hammond et al.   PLOS BIOLOGY