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View article: Expression of progerin enhances disease-related endpoints in a tau seeding reporter cell system
Expression of progerin enhances disease-related endpoints in a tau seeding reporter cell system Open
Sporadic Alzheimer’s disease and some forms of frontotemporal lobar degeneration (FTLD-tau) are neurological disorders of later life where cognitive deficits follow from the progressive accumulation of microtubule-associated tau protein. D…
View article: Disruption of the c‐terminal serine protease domain of <i>Fam111a</i> does not alter calcium homeostasis in mice
Disruption of the c‐terminal serine protease domain of <i>Fam111a</i> does not alter calcium homeostasis in mice Open
FAM111A gene mutations cause Kenney–Caffey syndrome (KCS) and Osteocraniostenosis (OCS), conditions characterized by short stature, low serum ionized calcium (Ca 2+ ), low parathyroid hormone (PTH), and bony abnormalities. The molecular me…
View article: Beta-endoproteolysis of the cellular prion protein by dipeptidyl peptidase-4 and fibroblast activation protein
Beta-endoproteolysis of the cellular prion protein by dipeptidyl peptidase-4 and fibroblast activation protein Open
The cellular prion protein (PrP C ) converts to alternatively folded pathogenic conformations (PrP Sc ) in prion infections and binds neurotoxic oligomers formed by amyloid-β α-synuclein, and tau. β-Endoproteolysis, which splits PrP C into…
View article: Investigating CRISPR/Cas9 gene drive for production of disease-preventing prion gene alleles
Investigating CRISPR/Cas9 gene drive for production of disease-preventing prion gene alleles Open
Prion diseases are a group of fatal neurodegenerative disorders that includes chronic wasting disease, which affects cervids and is highly transmissible. Given that chronic wasting disease prevalence exceeds 30% in some endemic areas of No…
View article: Susceptibility of Beavers to Chronic Wasting Disease
Susceptibility of Beavers to Chronic Wasting Disease Open
Chronic wasting disease (CWD) is a contagious, fatal, neurodegenerative prion disease of cervids. The expanding geographical range and rising prevalence of CWD are increasing the risk of pathogen transfer and spillover of CWD to non-cervid…
View article: Prion protein with a mutant N-terminal octarepeat region undergoes cobalamin-dependent assembly into high–molecular weight complexes
Prion protein with a mutant N-terminal octarepeat region undergoes cobalamin-dependent assembly into high–molecular weight complexes Open
View article: Pathologic tau conformer ensembles induce dynamic, liquid-liquid phase separation events at the nuclear envelope
Pathologic tau conformer ensembles induce dynamic, liquid-liquid phase separation events at the nuclear envelope Open
View article: Correction to: Diverse, evolving conformer populations drive distinct phenotypes in frontotemporal lobar degeneration caused by the same MAPT‑P301L mutation
Correction to: Diverse, evolving conformer populations drive distinct phenotypes in frontotemporal lobar degeneration caused by the same MAPT‑P301L mutation Open
View article: Tau Conformers in FTLD-MAPT&nbsp; Undergo Liquid-liquid Phase Separation and Perturb the Nuclear Envelope
Tau Conformers in FTLD-MAPT Undergo Liquid-liquid Phase Separation and Perturb the Nuclear Envelope Open
Background: Germline mutations in the MAPT gene cause some forms of frontotemporal lobar degeneration (FTLD). Recent studies show that a single mutation in MAPT can promote alternative tau misfolding pathways engendering divergent tau conf…
View article: Tau conformers in FTLD-MAPT undergo liquid-liquid phase separation and perturb the nuclear envelope
Tau conformers in FTLD-MAPT undergo liquid-liquid phase separation and perturb the nuclear envelope Open
Recent studies show that a single MAPT gene mutation can promote alternative tau misfolding pathways engendering divergent forms of frontotemporal dementia and that under conditions of molecular crowding, the repertoire of tau forms can in…
View article: Diverse, evolving conformer populations drive distinct phenotypes in frontotemporal lobar degeneration caused by the same MAPT-P301L mutation
Diverse, evolving conformer populations drive distinct phenotypes in frontotemporal lobar degeneration caused by the same MAPT-P301L mutation Open
View article: A novel Gerstmann-Sträussler-Scheinker disease mutation defines a precursor for amyloidogenic 8 kDa PrP fragments and reveals N-terminal structural changes shared by other GSS alleles
A novel Gerstmann-Sträussler-Scheinker disease mutation defines a precursor for amyloidogenic 8 kDa PrP fragments and reveals N-terminal structural changes shared by other GSS alleles Open
To explore pathogenesis in a young Gerstmann-Sträussler-Scheinker Disease (GSS) patient, the corresponding mutation, an eight-residue duplication in the hydrophobic region (HR), was inserted into the wild type mouse PrP gene. Transgenic (T…
View article: Correction: Still Heart Encodes a Structural HMT, SMYD1b, with Chaperone-Like Function during Fast Muscle Sarcomere Assembly
Correction: Still Heart Encodes a Structural HMT, SMYD1b, with Chaperone-Like Function during Fast Muscle Sarcomere Assembly Open
View article: Still Heart Encodes a Structural HMT, SMYD1b, with Chaperone-Like Function during Fast Muscle Sarcomere Assembly
Still Heart Encodes a Structural HMT, SMYD1b, with Chaperone-Like Function during Fast Muscle Sarcomere Assembly Open
The vertebrate sarcomere is a complex and highly organized contractile structure whose assembly and function requires the coordination of hundreds of proteins. Proteins require proper folding and incorporation into the sarcomere by assembl…
View article: Octarepeat region flexibility impacts prion function, endoproteolysis and disease manifestation
Octarepeat region flexibility impacts prion function, endoproteolysis and disease manifestation Open
The cellular prion protein (Pr P C ) comprises a natively unstructured N‐terminal domain, including a metal‐binding octarepeat region ( OR ) and a linker, followed by a C‐terminal domain that misfolds to form Pr P S c in Creutzfeldt‐Jakob …
View article: Still heart encodes a structural HMT, SMYD1b, with chaperone-like function during fast muscle sarcomere assembly
Still heart encodes a structural HMT, SMYD1b, with chaperone-like function during fast muscle sarcomere assembly Open
Raw data images for our manuscript "Still heart encodes a structural HMT, SMYD1b, with chaperone-like function during fast muscle sarcomere assembly."