Saskia Hoffmann
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View article: Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis
Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis Open
Kenny-Caffey syndrome (KCS) is a rare genetic disorder characterized by extreme short stature, cortical thickening and medullary stenosis of tubular bones, facial dysmorphism, abnormal T cell function, and hypoparathyroidism. Biallelic los…
View article: VCF1 is a p97/VCP cofactor promoting recognition of ubiquitylated p97-UFD1-NPL4 substrates
VCF1 is a p97/VCP cofactor promoting recognition of ubiquitylated p97-UFD1-NPL4 substrates Open
The hexameric AAA+ ATPase p97/VCP functions as an essential mediator of ubiquitin-dependent cellular processes, extracting ubiquitylated proteins from macromolecular complexes or membranes by catalyzing their unfolding. p97 is directed to …
View article: Concerted SUMO-targeted ubiquitin ligase activities of TOPORS and RNF4 are essential for stress management and cell proliferation
Concerted SUMO-targeted ubiquitin ligase activities of TOPORS and RNF4 are essential for stress management and cell proliferation Open
Summary Protein SUMOylation provides a principal driving force for cellular stress responses including DNA-protein crosslink (DPC) repair and arsenic-induced PML body degradation. In genome-scale screens, we identified the human E3 ligase …
View article: VCF1 is an unconventional p97/VCP cofactor promoting recognition of ubiquitylated p97-UFD1-NPL4 substrates
VCF1 is an unconventional p97/VCP cofactor promoting recognition of ubiquitylated p97-UFD1-NPL4 substrates Open
Summary The hexameric AAA+ ATPase p97/VCP functions as an essential mediator of ubiquitin-dependent cellular processes, extracting ubiquitylated proteins from macromolecular complexes or membranes by catalyzing their unfolding. p97 is dire…
View article: Defining a Cutoff for Progression of Macular Holes
Defining a Cutoff for Progression of Macular Holes Open
The established cutoff enables clinicians to differentiate true MH enlargement from measurement error.
View article: Automated quantification of mitral valve tenting volume in functional mitral regurgitation by three‐dimensional echocardiography
Automated quantification of mitral valve tenting volume in functional mitral regurgitation by three‐dimensional echocardiography Open
Background Tenting of the mitral leaflets is a major pathophysiological factor contributing to functional mitral regurgitation (FMR). A novel software tool allows automated quantification of the tenting volume (TnV) by 3D transesophageal e…
View article: Gain-of-function mutations amplify cytotoxic FAM111 protease activity in human genetic disorders
Gain-of-function mutations amplify cytotoxic FAM111 protease activity in human genetic disorders Open
Dominant missense mutations in the human serine protease FAM111A underlie perinatally lethal gracile bone dysplasia and Kenny-Caffey syndrome 1–3 , yet how FAM111A mutations lead to disease is not known. We show that FAM111A proteolytic ac…
View article: Regulation of ETAA1-mediated ATR activation couples DNA replication fidelity and genome stability
Regulation of ETAA1-mediated ATR activation couples DNA replication fidelity and genome stability Open
The ATR kinase is a master regulator of the cellular response to DNA replication stress. Activation of ATR relies on dual pathways involving the TopBP1 and ETAA1 proteins, both of which harbor ATR-activating domains (AADs). However, the ex…
View article: TRAIP drives replisome disassembly and mitotic DNA repair synthesis at sites of incomplete DNA replication
TRAIP drives replisome disassembly and mitotic DNA repair synthesis at sites of incomplete DNA replication Open
The faithful segregation of eukaryotic chromosomes in mitosis requires that the genome be duplicated completely prior to anaphase. However, cells with large genomes sometimes fail to complete replication during interphase and instead enter…
View article: Author response: TRAIP drives replisome disassembly and mitotic DNA repair synthesis at sites of incomplete DNA replication
Author response: TRAIP drives replisome disassembly and mitotic DNA repair synthesis at sites of incomplete DNA replication Open
Article Figures and data Abstract Introduction Results and discussion Materials and methods Data availability References Decision letter Author response Article and author information Metrics Abstract The faithful segregation of eukaryotic…