Global ETD Search
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Showing 1 to 4 of 4 for “"KIF5A"”.
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CROSS-DISEASE ANALYSIS OF MOLECULAR AND CELLULAR MECHANISMS IN KIF5A-ASSOCIATED NEURODEGENERATIVE DISORDERS
Kinesin family member 5A (KIF5A) is a neuron-specific kinesin involved in anterograde axonal transport. Heterozygous variants within the three KIF5A domains are linked to distinct neurodegenerative or neurodevelopmental disorders. Missense and nonsense mutations in KIF5A motor and stalk domains are …
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Structure/Function Studies on Vps9 domain-containing Ankyrin Repeat protein (VARP)
… to the Golgi tether golginA4, the kinesin motor Kif5a and the retromer complex subunit Vps29. The retromer core complex, comprising Vps35, Vps26, and Vps29, utilises different SNX proteins to mediate both Endosome to Golgi traffic, and Endosome to Plasma membrane traffic. The interaction of Varp …
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INDUCED PLURIPOTENT STEM CELLS (IPSC) TO STUDY PATHOMECHANISMS ASSOCIATED TO AMYOTROPHIC LATERAL SCLEROSIS (ALS)
… the different pathomechanisms associated with KIF5A gene mutations. To study DNA damage and DDR, we differentiated three C9ORF72 and two healthy control iPSC lines, already reprogrammed in the lab, into both neural stem cells (iPSC-NSC) and motor neurons (iPSC-MN) at different maturation time …
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Investigation of Sensory Cell-Specific Changes in Gene Expression in Microrna-183 Family Knockout Mouse Inner Ear From Bulk RNA Sequencing Analysis
… Rims3, Cntn1, Idh2, Cfl1, Anp32b, Palld, Hspa2, Kif5a, Map1b, Zbtb20, Plag1, Prkce, Amotl2, Slc44a2, Dcx, and Sncb. These 19 genes stood out due to their expression patterns after KO, their cell-specific expression in single-cell analysis data, their potential involvement in hearing loss-related …