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 determined that different variations of this gene have been associated with different signs and symptoms, progression and severity of disease.

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 Dominant. Among its related pathways are Golgi-to-ER …

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 Diagnosed? Register with our organization. February 28th is Rare disease Day, and this year we are celebrating with two important initiatives! 1.

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. Anterograde transport of membrane organelles is facilitated by the kinesin family protein encoded by the MT-based motor gene KIF1A .

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...

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 protein is, in turn, vital for the health of brain cells and nerve fibers. Even different variations in the gene can lead to similar signs and symptoms.

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 involvement. Here we present a case series demonstrating the range of clinical, neurophysiological, and radiological features …

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 KIF1A gene. There are currently over 100 identified mutations in the KIF1A gene. The symptoms and their severity vary depending on mutation type and individual patient.