Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Impaired motor unit recovery and maintenance in a knock-in mouse model of ALS-associated Kif5a variant

8 May 2023

Abstract excerpt

Kinesin family member 5A (KIF5A) is an essential, neuron-specific microtubule-associated motor protein responsible for the anterograde axonal transport of various cellular cargos. Loss of function variants in the N-terminal, microtubule-binding domain are associated with hereditary spastic paraplegia and hereditary motor neuropathy. These variants result in a loss of the ability of the mutant protein to process...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amyotrophic Lateral Sclerosis Research
Share to Hereditary Neurological Disorders
Share to Neurogenetic and Muscular Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 37164288
DOI: 10.1016/j.nbd.2023.106148

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Impaired motor unit recovery and maintenance in a knock-in mouse model of ALS-associated Kif5a variantPMID 37164288Read ↗

Axonal transport deficit in a KIF5A –/– mouse modelSemantic proximity Read ↗

ALS-Associated KIF5A Mutation Causes Locomotor Deficits Associated with Cytoplasmic Inclusions, Alterations of Neuromuscular Junctions, and Motor Neuron Loss.Semantic proximity Read ↗

One gene, many phenotypes: the role of KIF5A in neurodegenerative and neurodevelopmental diseases.Semantic proximity Read ↗

Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders.Semantic proximity Read ↗

ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function.Semantic proximity Read ↗

An ALS-associated KIF5A mutant forms oligomers and aggregates and induces neuronal toxicity.Semantic proximity Read ↗

An ALS-associated KIF5A mutant forms oligomers and aggregates and induces neuronal toxicitySemantic proximity Read ↗

Going Too Far Is the Same as Falling Short†: Kinesin-3 Family Members in Hereditary Spastic ParaplegiaSemantic proximity Read ↗

<i>De novo</i> mutations in KIF1A-associated neuronal disorder (KAND) dominant-negatively inhibit motor activity and axonal transport of synaptic vesicle precursorsSemantic proximity Read ↗

ALS-linked KIF5A ΔExon27 mutant causes neuronal toxicity through gain-of-function.Semantic proximity Read ↗

KIF5A regulates axonal repair and time-dependent axonal transport of SFPQ granules and mitochondria in human motor neuronsSemantic proximity Read ↗

Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic developmentSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.