Distinct Clinical Phenotypes in KIF1A-Associated Neurological Disorders Result from Different Amino Acid Substitutions at the Same Residue in KIF1A

Rao, L., Li, W., Shen, Y., Chung, W. K., & Gennerich, A. (2025). Distinct Clinical Phenotypes in KIF1A-Associated Neurological Disorders Result from Different Amino Acid Substitutions at the Same Residue in KIF1A. Biomolecules, 15(5), 656. https://doi.org/10.3390/biom15050656
Authors:
Lu Rao
Wenxing Li
Yufeng Shen
Wendy K Chung
Arne Gennerich
Affiliated Authors:
Wenxing Li
Yufeng Shen
Columbia Affiliation:
Subjects:
Regulation and Function of Microtubules in Cell Division (OpenAlex Topic)
Cell Mechanics and Extracellular Matrix Interactions (OpenAlex Topic)
Mechanisms of Intracellular Membrane Trafficking (OpenAlex Topic)
Kinesins (MeSH)
Amino Acid Substitution (MeSH)
Nervous System Diseases (MeSH)
Author Keywords:
kif1a
microtubules
genotype-phenotype associations
neurodevelopmental
neurodegenerative
kif1a-associated neurological disorders
amino acid substitutions
genotype–phenotype associations
elink
Publication Type:
Article
Unique ID:
10.3390/biom15050656
PMID:
40427549
DOI:
10.3390/biom15050656
Journal:
Biomolecules
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View OpenAlex Record
View Scopus Record
View Web of Science Record

Record Created: