0000000000543254

AUTHOR

Volkmar Hans

showing 2 related works from this author

O-glycosylation of the tail domain of neurofilament protein M in human neurons and in spinal cord tissue of a rat model of amyotrophic lateral sclero…

2005

Mammalian neurofilaments (NFs) are modified by post-translational modifications that are thought to regulate NF assembly and organization. Whereas phosphorylation has been intensely studied, the role of another common modification, the attachment of O-linked N-acetylglucosamine (GlcNAc) to individual serine and threonine residues, is hardly understood. We generated a novel monoclonal antibody that specifically recognizes an O-glycosylated epitope in the tail domain of NF-M and allows determination of the glycosylation state at this residue. The antibody displays strong species preference for human NF-M, shows some reactivity with rat but not with mouse or bovine NF-M. By immunohistochemistr…

NeurofilamentGlycosylationGlycosylationMolecular Sequence DataHyperphosphorylationBiologyMitogen-activated protein kinase kinaseBiochemistryAnimals Genetically Modifiedchemistry.chemical_compoundEpitopesMiceWestern blotNeurofilament ProteinsCell Line TumorAcetylglucosaminidasemedicineAnimalsHumansAmino Acid SequenceProtein kinase AMolecular BiologyMitogen-Activated Protein Kinase KinasesNeuronsmedicine.diagnostic_testKinaseAmyotrophic Lateral SclerosisAntibodies MonoclonalCell BiologyAxonsCell biologyProtein Structure TertiaryRatsDisease Models AnimalchemistryBiochemistrySpinal CordNIH 3T3 CellsPhosphorylationCattleThe Journal of biological chemistry
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Childhood supratentorial ependymomas with YAP1-MAMLD1 fusion: an entity with characteristic clinical, radiological, cytogenetic and histopathological…

2018

Ependymoma with YAP1-MAMLD1 fusion is a rare, recently described supratentorial neoplasm of childhood, with few cases published so far. We report on 15 pediatric patients with ependymomas carrying YAP1-MAMLD1 fusions, with their characteristic histopathology, immunophenotype and molecular/cytogenetic, radiological and clinical features. The YAP1-MAMLD1 fusion was documented by RT-PCR/Sanger sequencing, and tumor genomes were studied by molecular inversion probe (MIP) analysis. Significant copy number alterations were identified by GISTIC (Genomic Identification of Significant Targets in Cancer) analysis. All cases showed similar histopathological features including areas of high cellularity…

0301 basic medicineEpendymomaSanger sequencingPathologymedicine.medical_specialtybusiness.industryGeneral NeuroscienceSupratentorial NeoplasmLocus (genetics)medicine.diseaseMolecular Inversion ProbePathology and Forensic Medicine03 medical and health sciencessymbols.namesake030104 developmental biology0302 clinical medicineImmunophenotypingmedicinesymbolsHistopathologyNeurology (clinical)medicine.symptombusinessAnaplasia030217 neurology & neurosurgeryBrain Pathology
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