2023年9月29日 · KIF1A-related disorder is a group of genetic disorders caused by one or more variations (pathogenic variants or mutations) in the KIF1A gene. Researchers have …

KIF1A is a neuron-specific member of the kinesin-3 family and is a microtubule plus end-directed motor protein involved in the anterograde, long-distance transport of vesicles and organelles.

2024年12月25日 · KIF1A (Kinesin Family Member 1A) is a Protein Coding gene. Diseases associated with KIF1A include Nescav Syndrome and Spastic Paraplegia 30A, Autosomal …

KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure. Newly …

KIF1A-associated neurological diseases (KANDs) are a group of inherited conditions caused by changes in the microtubule (MT) motor protein KIF1A as a result of KIF1A gene mutations. …

Learn the common symptoms of KIF1A Associated Neurological Disorder, including spastic paraplegia & hypotonia. Symptoms & severity can vary widely.

Here, we present 2.7-3.5 Å resolution structures of dimeric microtubule-bound KIF1A, including the pathogenic P305L mutant, across various nucleotide states. Our structures reveal that …

KIF1A associated neurological disorder (KAND) is caused by one or more disease-causing variations in the KIF1A gene. KIF1A is responsible for producing the KIF1A protein. This …

KIF1A-related disorders (KRD) were first described in 2011 and the phenotypic spectrum has subsequently expanded to encompass a range of central and peripheral nervous system …

2017年5月14日 · KIF1A Associated Neurological Disorder (KAND) is a rare severe neurodevelopmental and neurodegenerative disease. KAND is caused by mutations in the …