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227 Possible Causes for Neurofilament, Proteins,, Triplet

Did you mean: Neurofilament, proteus, Triplet

  • Friedreich Ataxia

    (GFAP), S100, vimentin, the central nervous system (CNS)-specific myelin protein proteolipid protein, the peripheral nervous system (PNS) myelin proteins PMP-22 and P0, and[ncbi.nlm.nih.gov] Immunohistochemistry for phosphorylated neurofilament protein, peripheral myelin protein 22, and myelin proteolipid protein confirmed chaotic transition of axons into the[ncbi.nlm.nih.gov] An allele containing an uninterrupted run of 34 GAA triplets was stably transmitted in four instances, but in one case underwent hyperexpansion to 650 triplets.[ncbi.nlm.nih.gov]

  • Herpes Simplex Virus 1 Infection

    Sections from the cultured TG fragments were stained with antisera against non-structural proteins such as the immediate early (IE) protein ICP27 and the early (E) proteins[ncbi.nlm.nih.gov] […] against the GDNF family ligand receptor Ret, the high-affinity nerve growth factor receptor TrkA, neuronal nitric oxide synthase (nNOS), the antibody RT97 against 200 kDa neurofilament[ncbi.nlm.nih.gov] Generation of the protein triplet moieties required transcription of the alpha27 gene.[ncbi.nlm.nih.gov]

  • Distal Hereditary Motor Neuropathy

    […] the control of protein-protein interactions as chaperons.[ncbi.nlm.nih.gov] Cotransfection of neurofilament light chain (NEFL) and mutant HSPB1 resulted in altered neurofilament assembly in cells devoid of cytoplasmic intermediate filaments.[ncbi.nlm.nih.gov] RESULTS: The triplets and their mother presented in the second to third decade of life with progressive weakness affecting distal and proximal lower limb and truncal muscles[readbyqxmd.com]

  • Spinocerebellar Ataxia Type 1

    Here we show that the expanded polyglutamine tract differentially affects the function of the host protein in the context of different endogenous protein complexes.[ncbi.nlm.nih.gov] Castration restores function and neurofilament alterations of aged symptomatic males in a transgenic mouse model of spinal and bulbar muscular atrophy . J.[doi.org] A Siberian kindred with spinocerebellar ataxia genetically linked to the SCA1 locus on chromosome 6p has been screened for the CAG triplet expansion within the coding region[ncbi.nlm.nih.gov]

  • Spinal and Bulbar Muscular Atrophy

    […] genetics Receptors, Androgen/metabolism* Substances Drosophila Proteins Nuclear Proteins Peptides RNA, Messenger Receptors, Androgen polyglutamine PRMT6 protein, human PRMT6[ncbi.nlm.nih.gov] […] failed to affect cellular markers of disease, including inclusion formation (the accumulation of large nuclear aggregates of mutant AR protein) and levels of unphosphorylated neurofilament[ncbi.nlm.nih.gov] Modifying factors other than diabetes, gynecomastia or triplet repeat size are suggested in disease expression.[cambridge.org]

  • Dentatorubral-Pallidoluysian Atrophy

    Emerging data indicate that huntingtin and atrophin-1 may have distinct protein interactions.[ncbi.nlm.nih.gov] Electron microscopy revealed that they consisted of bundles of filaments that were somewhat thicker than neurofilaments.[ncbi.nlm.nih.gov] There was good correlation of the age of onset with the number of triplet repeats.[ncbi.nlm.nih.gov]

  • Spinocerebellar Ataxia, Type 2

    Protein Names Recommended name: Ataxin-2; Alternative name(s): Spinocerebellar ataxia type 2 protein homolog Protein IDs (Accession numbers) Organism Gene Names Atxn2 [ GenPool[genscript.com] ( LITAF ); Charcot-Marie-Tooh type 1D : gene Early Growth Response 2 ( EGR2 ); Charcot-Marie-Tooh type 2A : gene Mitofusin 2 ( MFN2 ); Charcot-Marie-Tooh type 2E : gene Neurofilament[isn.cnr.it] The initial symptoms usually appear when subjects are in their 30s.Pediatric onset is less common and usually associated with larger triplet expansions.[ncbi.nlm.nih.gov]

  • Preeclampsia

    From this dataset the associated protein-protein interaction network has been obtained.[bmcsystbiol.biomedcentral.com] […] of a combination of neurofilament light chain, tau, S100B and neuron specific enolase in identifying neurologic impairment before diagnosis of preeclampsia.[ncbi.nlm.nih.gov] Abstract Delayed interval delivery in twin pregnancies is an unusual occurrence, even more so in triplet pregnancies.[ncbi.nlm.nih.gov]

  • Huntington's Disease

    Analysis of protein-protein interactions (PPIs) is a valuable approach for characterizing proteins of unknown function.[ncbi.nlm.nih.gov] Comparisons were made with markers of neurodegeneration: neurofilament light (NFL), total-tau (T-tau), and phospho-tau (P-tau).[ncbi.nlm.nih.gov] Slippage by two triplets is 20 times more frequent than by one triplet, in accordance with our finding that hairpin loops with even numbers of triplets are 1–2 kcal/mol more[doi.org]

  • Kuru

    […] in mediating protein-to-protein contact could explain the susceptibility determined by the polymorphic residues 129 and 127.[doi.org] The sera reacted most frequently with the 200-kDa and 150-kDa neurofilament proteins and less frequently with the 70-kDa neurofilament protein and a 62-kDa neurofilament-associated[ncbi.nlm.nih.gov] The sera from the chimpanzees reacted mainly with the 200- and 150-kDa proteins of the neurofilament triplet and less frequently with the 70-kDa component of the triplet and[ncbi.nlm.nih.gov]