KIF1A antibody - N-terminal region (ARP33900_P050)
- Known as:
- KIF1A (anti-) - N-terminal region (ARP33900_P050)
- Catalog number:
- arp33900_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- KIF1A antibody - N-terminal region (ARP33900_P050)
Related genes to: KIF1A antibody - N-terminal region (ARP33900_P050)
- Gene:
- KIF1A NIH gene
- Name:
- kinesin family member 1A
- Previous symbol:
- ATSV, C2orf20, SPG30
- Synonyms:
- UNC104
- Chromosome:
- 2q37.3
- Locus Type:
- gene with protein product
- Date approved:
- 1995-12-18
- Date modifiied:
- 2019-04-23
Related products to: KIF1A antibody - N-terminal region (ARP33900_P050)
Related articles to: KIF1A antibody - N-terminal region (ARP33900_P050)
- -associated neurological disorder (KAND) encompasses recessive and dominant variants with wide clinical variability. Several de novo variants in the gene have been reported to cause a complicated form of hereditary spastic paraplegia (HSP), frequently accompanied by peripheral neuropathy, cerebellar ataxia, and cognitive impairment. Instrumented three-dimensional (3D) gait analysis is underutilized in this population, and comparative data between KAND and pure HSP remain limited. We performed a comprehensive instrumented 3D gait analysis in a 19-year-old woman with KAND caused by a heterozygous de novo variant c.773C>T (p.Thr258Met) in the motor domain (exon 8), presenting with progressive spastic paraparesis. Assessment included spatiotemporal parameters; 3D kinematics of the hip, knee, and ankle; kinetic analysis of ground reaction forces; joint moments and powers; baropodometry; surface dynamic telemetric electromyography (EMG) of the lower limb muscles bilaterally; and fine-wire EMG of the left flexor digitorum longus and flexor hallucis longus. Walking speed, stride length, and cadence were within normal limits for age and sex. Kinematic analysis revealed bilateral deficits in hip and knee extension during stance, hip internal rotation and adduction during swing, reduced knee flexion in swing, and bilateral ankle dorsiflexion deficit during swing. Clinically, maintained flexion of all toes bilaterally was observed and filmed. Ankle push-off power was markedly reduced bilaterally (32.5%-42.5% of normative values). EMG demonstrated out-of-phase activation of the adductor longus, gracilis, semimembranosus, and biceps femoris, and continuous co-contraction throughout the gait cycle of the extensor digitorum longus, flexor digitorum longus, and flexor hallucis longus. Brief high-amplitude bursts compatible with possible myoclonic activity were identified in the right gastrocnemius and soleus during swing phase. This case illustrates a KAND phenotype in which gait speed is preserved, but kinematic, kinetic, and EMG profiles are substantially abnormal, a pattern that differs from classical HSP, where speed reduction is typically a hallmark finding. The combination of spastic, ataxic, and peripheral neuropathy components produces a distinct and complex gait signature. Quantitative gait analysis may provide clinically useful information to guide targeted interventions, including botulinum toxin injections, orthotic management, and physiotherapy, in this heterogeneous population. - Source: PubMed
Publication date: 2026/07/13
Pessoa Ana RitaPortugal DiogoPinho FábioCamarinha InêsJacinto Jorge - Prime editing (PE) can make specific local changes to genomic DNA in living systems but its efficient application currently requires extensive optimization of PE guide RNA (pegRNA) sequences. Here we present OptiPrime, a machine learning model of PE efficiency based on current understanding of PE mechanisms. OptiPrime achieves state-of-the-art accuracy on PE efficiency prediction and enables prediction of nicking guide RNA (PE3) and dual pegRNA (twinPE) outcomes. We validate that OptiPrime has learned the determinants of mammalian mismatch repair (MMR) and is well suited for nominating MMR-evasive silent edits that improve PE efficiency. We demonstrate the use of OptiPrime in a variety of prospective therapeutic contexts in primary human and mouse cells. Lastly, we show that OptiPrime can be used to achieve streamlined and efficient in vivo correction of a pathogenic mutation in the brain of a mouse model of KIF1A-associated neurological disorder. We provide a webserver for OptiPrime ( https://optipri.me/ ) as a community resource. - Source: PubMed
Publication date: 2026/08/12
Hsu AlvinChen Peter JLi Angus HHemez Colin FGao Xin DTerrey MarkusNelson CharlieSelvam VijayCristian AnaMcElroy Amber NSteinbeck Benjamin JMahadeshwar Gandhar KPandey SmritiBarsdale ZacharyChen Paul ZSousa Alexander ASakai Holt ASilverstein Rachel AMorad IliasKrueger Ryan KShen Max WKleinstiver Benjamin PLutz Cathleen MTolar JakubBlazar Bruce ROsborn Mark JLiu David R - Mutations in the molecular motor protein KIF1A result in a spectrum of neurodevelopmental and neurodegenerative disorders termed KIF1A-Associated Neurological Disorder (KAND). KIF1A mutations variably disrupt synaptic vesicle trafficking, but the effects of KIF1A mutations on other trafficking pathways remain unexplored. Autophagy is a conserved pathway required for neuronal homeostasis. We investigated the role of KIF1A in autophagy using gene-edited human IPSC-derived neurons. KIF1A loss inhibited the trafficking of ATG9, a transmembrane lipid scramblase necessary for autophagosome biogenesis. This deficit significantly reduced autophagosome biogenesis and the density of axonal autophagosomes. KIF1A loss also depleted lysosomes from the axon, inhibiting autophagosome maturation. In neurons gene-edited to heterozygously express a pathogenic variant linked to a Rett-like syndrome in KAND patients, we also noted significant deficits in autophagy and lysosomal trafficking. Together, these results suggest that KIF1A-mediated transport is critical to neuronal autophagy and that deficits in autophagy may contribute to pathogenesis in KAND. - Source: PubMed
Publication date: 2026/07/24
Borland CarrisPopolow JacobHolzbaur Erika L F - KIF1A-associated neurological disorder (KAND) encompasses a broad neurodevelopmental and neurodegenerative spectrum in which motor and movement disorders are common but incompletely defined. - Source: PubMed
Publication date: 2026/07/25
Bernardi KaterinaRibeiro GiovanaBattaglia NicoleWaxler JessicaTam AmyRong JoshuaSaez-Diez Enrique GonzalezCameron CandaceFerrer-Socorro MonicaZaman ZainabAgianda Habibah A PQuiroz VicenteYang KathrynChung Wendy KEbrahimi-Fakhari Darius - Kinesin family genes (KIFs), a group of microtubule-associated motor proteins, have emerged as potential novel biomarkers in cervical cancer (CC). In the present study, a comprehensive bioinformatics analysis of KIF expression profiles was conducted using The Cancer Genome Atlas CC dataset and 23 KIFs with prognostic significance were identified. Non-negative matrix factorization based on their expression patterns revealed three distinct molecular subtypes of CC: C1, C2 and C3. To facilitate subtype prediction, a neural network model trained on KIF expression data was developed and validated in independent Mexican and Korean cohorts. Multi-omics characterization of the subtypes revealed distinct biological features: C1 was associated with downregulated oncogenic signaling; C2 exhibited activation of Hippo-YAP and VEGFR pathways; and C3 was characterized by Wnt signaling activation and an immune-silent phenotype. Predicted immunotherapy responses also varied across subtypes, with C1 patients anticipated to have the most favorable outcomes. Notably, KIF4A and KIF1A were identified as novel biomarker candidates specific to subtypes C2 and C3, respectively, and their expression patterns were validated in a Chinese CC cohort via immunohistochemistry, supporting their potential utility in prognostication and patient stratification. Overall, these findings provide new insights into the molecular heterogeneity of CC and highlight KIF genes as promising biomarkers for guiding personalized therapeutic strategies. - Source: PubMed
Publication date: 2026/07/08
Zhao XinyiWu JieLi LanZhang HaohanLi JingZhong HaoDan YuchaoSong QibinChen HongbinXu Bin