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- Domain created: 2016-08-27T02:42:34Z
- Domain updated: 2024-07-15T18:26:07Z
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- inetnum : 141.193.213.0 - 141.193.213.255
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- handle : NET-141-193-213-0-1
- status : Direct Allocation
- created : 2020-03-20
- changed : 2024-11-25
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- IP address: 141.193.213.11
- Location: United States
- Latitude: 37.751
- Longitude: -97.822
- Timezone: America/Chicago
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Websites Listing
We found Websites Listing below when search with kif1a.org on Search Engine
KIF1A Hosts Educational Webinar to Raise Awareness - Good ...
2022-02-08 · KIF1A Hosts Educational Webinar to Raise Awareness. admin -February 8, 2022 -0 comments January 25th – Kathryn Atchley, President of KIF1A.org hosted a live webinar with Good Dogg Beverage and CDK (Canines for Disables Kids) on the topic of service dogs. CDK Executive Director, Kristin Hartness, presented the hour-long webinar touching on a range of …
Gooddoggbeverage.comKIF1A.ORG - NORD (National Organization for Rare Disorders)
KIF1A.ORG is a patient-led foundation started by parents dedicated to finding a cure for children living with KIF1A Disorder, a rare genetic disease. Our goal is to swiftly connect families and support relentless research leading to treatment for KIF1A. Facebook:
Rarediseases.orgDe Novo Mutations in the Motor Domain of KIF1A Cause ...
2014-09-29 · Recessive mutations in KIF1A were previously described in families with spastic parap... Skip to Article Content; Skip to Article Information ... 3175 Côte Sainte-Catherine, Montreal, Qc, Canada H3T 1C5. E-mail: [email protected]; Tjitske Kleefstra, Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior …
Onlinelibrary.wiley.comKIF1A syndrome - Rare Chromo
KIF1A variant or is a coincidence (Tomaselli 2017). Most common features: Spastic paraplegia (stiff, weak legs) sometimes with ataxia (unsteadiness of movements or tremor) Those with spastic paraplegia also have intellectual disability, speech/language delay and developmental delay Other possible features include: Epileptic seizures Thinning of the optic nerve Leg …
Rarechromo.orgThe Superhero’s Hippocratic Oath - KIF1A
2017-02-06 · By Luke Rosen This morning I received an email from a parent whose child was just diagnosed with a KIF1A mutation. The family has suffered through almost 10 years of misdiagnosis, agony and unnecessary (often painful) tests. These parents have been on a decade-long quest for an answer to their son's degenerative disease. Not…
Kif1a.wordpress.comGSK3β Impairs KIF1A Transport in a Cellular Model of ...
Impairment of axonal transport is an early pathologic event that precedes neurotoxicity in Alzheimer’s disease (AD). Soluble amyloid-β oligomers (AβOs), a causative agent of AD, activate intracellular signaling cascades that trigger phosphorylation of many target proteins, including tau, resulting in microtubule destabilization and transport impairment. Here, we investigated how …
Eneuro.orgKIF1A - Wikipedia
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. Similar to other kinesin proteins, KIF1A harnesses the chemical energy released from Adenosine Triphosphate (ATP) hydrolysis to create mechanical force, allowing it to “walk” along …
En.wikipedia.orgKIF1A - an overview | ScienceDirect Topics
KIF1A and KIF1Bβ are plus-end-directed motors of ~190 kDa, which are relatively abundantly expressed in the axon and transport precursors of synaptic vesicles. They are monomeric motors, which is rather unique compared to other KIFs ( Figure 2 ). They are also one of the fastest KIFs (~1.5 μm s −1) ( Table 1 ). Unc104 is a homolog of mouse ...
Sciencedirect.comThe Elevator - KIF1A
2018-03-09 · A few months ago I was invited to speak to a group of medical students about KIF1A and how our daughter was finally diagnosed with such a rare condition. We talked about the difficulty of accessing appropriate genetic testing, and the delay in receiving results. A student asked me if we had a positive experience with our medical team. Just as I was about to …
Kif1a.wordpress.comKIF1A - Kinesin-like protein KIF1A - Homo sapiens (Human ...
2006-12-12 · Kinesin-like protein KIF1A. Gene. KIF1A. Organism. Homo sapiens (Human) Status. Reviewed-Annotation score: -Experimental evidence at protein level i. Function i. Motor for anterograde axonal transport of synaptic vesicle precursors. Also required for neuronal dense core vesicles (DCVs) transport to the dendritic spines and axons. The interaction calcium …
Uniprot.orgKIF1A missense mutations in SPG30, an autosomal recessive ...
2012-01-18 · Mutations in the KIF1A gene (MIM 601255) were very recently described in two different clinically and genetically heterogeneous groups of neurodegenerative diseases. 4, 5 In hereditary sensory and ...
Nature.comKIF1A – NETFRITZ TECHNOLOGY
KIF1A.ORG es una comunidad global dedicada a mejorar las vidas de las personas afectadas por el trastorno neurológico asociado a KIF1A y a acelerar la investigación para encontrar una cura. 2021 KAND Family & Scientific Engagement Conference . Vídeos en español. Sobre nosotros. Misión y Visión; Impacto; Historia; Equipo; Partners ; Prensa; Contacto; Nuestra …
Netfritz-technology.onlineKIF1A.ORG Grows and Connects a Global Community - Wired Impact
KIF1A.ORG was able to use the form builder on their website to create a custom contact form for each of their different audiences: families, researchers and medical professionals. Submitting the form turned out to be a much lower barrier to entry for reaching out than sending an individual email. When you’re trying to build a community, simplifying the outreach process is huge.
Wiredimpact.comMotor domain-mediated autoinhibition dictates axonal ...
2021-11-29 · Author summary UNC-104/KIF1A is the founding member of the kinesin-3 family. When not transporting cargos, most kinesin-3 motors adopt an autoinhibited conformation, and how the UNC-104/KIF1A motor is activated in vivo is not fully understood. Here, we identified gain-of-function mutations in the motor domain or CC1 domain that significantly enhance the …
Journals.plos.orgPolyglutamylation of tubulin's C-terminal tail controls ...
The kinesin-3 family member KIF1A plays a critical role in site-specific neuronal cargo delivery during axonal transport. KIF1A cargo is mislocalized in many neurodegenerative diseases, indicating that KIF1A's highly efficient, superprocessive motility along axonal microtubules needs to be tightly regulated. One potential regulatory mechanism may be through posttranslational …
Jbc.org分子马达KIF1A的研究进展 - hunnu.edu.cn
E-mail Alert: RSS: 作者相关文章: 黄艳宾: 李 洁: 刘秀红: 纪 青: Abstract：Abstract: Kinesin family member 1A (KIF1A) is a plus-end kinesin-3 family motor protein that moves along microtubule filaments and is powered by the energy derived from ATP hydrolysis. It is an important transporter of synaptic vesicle precursors along microtubule bundles to the axon terminal. Mutations ...
Smkx.hunnu.edu.cnrarechromo
KIF1A variant or is a coincidence (Tomaselli 2017). Most common features: Spastic paraplegia (stiff, weak legs) sometimes with ataxia (unsteadiness of movements or tremor) Those with spastic paraplegia also have intellectual disability, speech/language delay and developmental delay Other possible features include: Epileptic seizures Thinning of the optic nerve Leg …
Rarechromo.orgThe Important of Whole Exome Sequencing for KIF1A Mutation ...
2017-02-08 · This morning I received an email from a parent whose child was just diagnosed with a KIF1A mutation. The family has suffered through almost 10 years of misdiagnosis, agony and unnecessary (often painful) tests. These parents have been on a decade-long quest for an answer to their son’s degenerative disease.
Themighty.comVCV000211292.10 - ClinVar - NCBI
This variant has been observed in combination with another KIF1A variant in an individual affected with hereditary spastic paraplegia (PMID: 30564185). This variant is also known as NM_001244008:c.4927G>A (p.Asp1643Asn) in the literature. ClinVar contains an entry for this variant (Variation ID: 211292). Algorithms developed to predict the effect of missense changes …
Ncbi.nlm.nih.govKIF1A Family Support Group - Facebook
KIF1A Family Support Group has 673 members. This support group is intended as a private setting for family members and people close to those diagnosed with a KIF1A-related disorder. To create a safe and trusted environment facilitating dialogue and shared experiences, requests to join the group will be reviewed before we warmly welcome you into our community. For people …
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