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

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

(2020) Konrad J. Karczewski et al.   NATURE

Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing

(2019) Kazuhiro Iwama et al.   JOURNAL OF MEDICAL GENETICS

The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome

(2019) S. Vidal et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes

(2019) Francesca Cogliati et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Microtubules: A Key to Understand and Correct Neuronal Defects in CDKL5 Deficiency Disorder?

(2019) Isabella Barbiero et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Going Too Far Is the Same as Falling Short†: Kinesin-3 Family Members in Hereditary Spastic Paraplegia

(2019) Dominik R. Gabrych et al.   Frontiers in Cellular Neuroscience

Rett and Rett‐like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene

(2019) Jiaping Wang et al.   Molecular Genetics & Genomic Medicine

Clinician’s guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature

(2018) B. Schönewolf-Greulich et al.   CLINICAL GENETICS

Altered chemomechanical coupling causes impaired motility of the kinesin-4 motors KIF27 and KIF7

(2018) Yang Yue et al.   JOURNAL OF CELL BIOLOGY

Rett syndrome: insights into genetic, molecular and circuit mechanisms

(2018) Jacque P. K. Ip et al.   NATURE REVIEWS NEUROSCIENCE

Regulation of KIF1A-Driven Dense Core Vesicle Transport: Ca 2+ /CaM Controls DCV Binding and Liprin-α/TANC2 Recruits DCVs to Postsynaptic Sites

(2018) Riccardo Stucchi et al.   Cell Reports

De novo mutations in SCN1A are associated with classic Rett syndrome: a case report

(2018) Mari Wold Henriksen et al.   BMC Medical Genetics

Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene

(2017) M. Krenn et al.   EUROPEAN JOURNAL OF NEUROLOGY

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

(2017) Diana Mitter et al.   GENETICS IN MEDICINE

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene

(2017) Chong Kun Cheon et al.   Scientific Reports

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

Loss of MeCP2 disrupts cell autonomous and autocrine BDNF signaling in mouse glutamatergic neurons

(2016) Charanya Sampathkumar et al.   eLife

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome

(2015) Sylvie Langlois et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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 KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance

(2015) Chihiro Ohba et al.   JOURNAL OF HUMAN GENETICS

The axonal cytoskeleton: from organization to function

(2015) Josta T. Kevenaar et al.   Frontiers in Molecular Neuroscience

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

KIF1A mutation in a patient with progressive neurodegeneration

(2014) Nobuhiko Okamoto et al.   JOURNAL OF HUMAN GENETICS

MeCP2 deficiency is associated with reduced levels of tubulin acetylation and can be restored using HDAC6 inhibitors

(2014) W. A. Gold et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Dimerization of mammalian kinesin-3 motors results in superprocessive motion

(2014) V. Soppina et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Conserved mechanisms of microtubule-stimulated ADP release, ATP binding, and force generation in transport kinesins

(2014) Joseph Atherton et al.   eLife

Force generation by kinesin and myosin cytoskeletal motor proteins

(2013) F. Jon Kull et al.   JOURNAL OF CELL SCIENCE

BDNF deregulation in Rett syndrome

(2013) Wei Li et al.   NEUROPHARMACOLOGY

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

MeCP2 deficiency is associated with impaired microtubule stability

(2012) Chloé Delépine et al.   FEBS LETTERS

Motor Protein KIF1A Is Essential for Hippocampal Synaptogenesis and Learning Enhancement in an Enriched Environment

(2012) Makoto Kondo et al.   NEURON

Activity-dependent BDNF release and TRPC signaling is impaired in hippocampal neurons of Mecp2 mutant mice

(2012) W. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

(2011) Jean-Baptiste Rivière et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

(2011) Y. Erlich et al.   GENOME RESEARCH

KIF1A is the primary anterograde motor protein required for the axonal transport of dense-core vesicles in cultured hippocampal neurons

(2011) K.Y. Lo et al.   NEUROSCIENCE LETTERS

The Translocation Selectivity of the Kinesins that Mediate Neuronal Organelle Transport

(2011) Chun-fang Huang et al.   TRAFFIC

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

(2010) Hanka Venselaar et al.   BMC BIOINFORMATICS

Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain

(2010) Joanne H Gibson et al.   BMC NEUROSCIENCE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Kinesin superfamily motor proteins and intracellular transport

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

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

(2009) B. B. Zeev et al.   NEUROLOGY

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