| dc.rights.license | CC-BY-NC-ND | |
| dc.contributor.advisor | Berger, Florian | |
| dc.contributor.author | Vermeer, Phebe | |
| dc.date.accessioned | 2022-02-03T00:00:30Z | |
| dc.date.available | 2022-02-03T00:00:30Z | |
| dc.date.issued | 2022 | |
| dc.identifier.uri | https://studenttheses.uu.nl/handle/20.500.12932/462 | |
| dc.description.abstract | In the last few years, neurological diseases have been among the leading causes of
death worldwide. A severe but rare neurodegenerative disorder is KIF1A Associated
Neurological Disorder (KAND). This disorder is only identified in a few hundred people
worldwide, mainly because the symptoms and genetic mutation associated with this disease
wildly vary between patients making it hard to diagnose. Symptoms of this disease include
cognitive impairment, spastic paraplegia, and epilepsy, among many others. KAND is caused
by a genetic mutation in the kinesin family member 1A (KIF1A) gene, which codes for a motor
protein responsible for the active intracellular transport of synaptic vesicle precursors. Here,
I review recent insights on KAND and the molecular mechanism behind different KIF1A
variants. | |
| dc.description.sponsorship | Utrecht University | |
| dc.language.iso | EN | |
| dc.subject | Variants in the kinesin family member 1A (KIF1A) gene can lead to multiple neurological diseases. One of these diseases is called KIF1A Associated Neurological Disorder (KAND). Here, I describe what is known about these variants and the disease. | |
| dc.title | Finding a cure for the rare but severe KIF1A Associated Neurological Disorder,
what we (need to) know. | |
| dc.type.content | Master Thesis | |
| dc.rights.accessrights | Open Access | |
| dc.subject.keywords | KIF1A; KAND; neurodegenerative disease; molecular transport; motor proteins | |
| dc.subject.courseuu | Molecular and Cellular Life Sciences | |
| dc.thesis.id | 2093 | |
