Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

Stefan-M. Pulst, Alex Nechiporuk, Tamilla Nechiporuk, +13

Nature Genetics

Molecular NeuroscienceGenetic DisorderMedicineGeneticsMolecular Genetics +4

Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human

Duong P. Huynh, Karla P. Figueroa, Nam V. Hoang, +1

Nature Genetics

Knockout MouseDevelopmental BiologyInclusion Body FormationCellular BiologySca2 Pathogenesis +5

The Neuroimaging and Clinical Spectrum of Neurofibromatosis 2

Victor-Felix Mautner, Matthias Lindenau, Michael E. Baser, +5

Neurosurgery

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

Sophie Tézenas du Montcel, Alexandra Dürr, Peter Bauer, +28

Brain

GeneticsVarious GenesHuman PolymorphismRepeat ExpansionsIdentified Expansions +14

Generation and characterization of Sca2 (ataxin-2) knockout mice

Tim-Rasmus Kiehl, Alex Nechiporuk, Karla P. Figueroa, +3

Biochemical and Biophysical Research Communications

Knockout MouseSignal TransductionSignaling PathwayKnockout MiceMolecular Neurobiology +3

Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset

Stefan-M. Pulst, Nieves Santos, Dai Wang, +4

Brain

Sca2 ProteinsGeneticsGenetic EpidemiologyHuman PolymorphismPolyq Repeat Variation +19

Parkin is associated with actin filaments in neuronal and nonneural cells

Duong P. Huynh, Daniel R. Scoles, Trang H. Ho, +2

Annals of Neurology

CytoskeletonCellular NeurobiologyCellular PhysiologySocial SciencesParkin Labeling +18

Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death

Duong P. Huynh, Dung Nguyen, Johannes B. Pulst-Korenberg, +2

Experimental Neurology

MitophagyProtein FunctionSignal TransductionMutant Ataxin-2Signaling Pathway +8

The Alzheimer amyloid precursor protein maps to human chromosome 21 bands q21.105–q21.05

Julie R. Korenberg, Stefan-M. Pulst, Rachael L. Neve, +1

Genomics

Neurodegenerative DiseasesMolecular NeuroscienceAlzheimer's DiseaseMolecular BiologyDegenerative Pathology +8

Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion

Julie R. Korenberg, Dagmar K. Kalousek, Göran Annerén, +4

Human Genetics

Intellectual ImpairmentChromatinDevelopmental BiologyCytogeneticsGenetic Disorder +9