Simone M. Sauter
University of Göttingen
12 Papers
215 Citations
Simone M. Sauter is an academic researcher from University of Göttingen. The author has contributed to research in topics: Hereditary spastic paraplegia & Spastin. The author has an hindex of 10, co-authored 12 publications.
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Papers
ZFYVE27 (SPG33), a Novel Spastin-Binding Protein, Is Mutated in Hereditary Spastic Paraplegia
Ashraf U. Mannan,Philip Krawen,Simone M. Sauter,Johann Boehm,Agnieszka Chronowska,Walter Paulus,Juergen Neesen,Wolfgang Engel +7 more
TL;DR: ZFYVE27, a novel member of the FYVE-finger family of proteins, is reported as a specific spastin-binding protein, and the interaction by both in vivo coimmunoprecipitation and colocalization experiments in mammalian cells is validated.
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Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia
Simone M. Sauter,Bianca Miterski,S. Klimpe,D. Bönsch,Ludger Schöls,A. Visbeck,T. Papke,H. C. Hopf,Wolfgang Engel,Thomas Deufel,Jörg T. Epplen,Jürgen Neesen +11 more
TL;DR: The spastin gene of HSP patients from 161 apparently unrelated families in Germany was analyzed and mutations in 27 out of the 161 HSP families were identified; 23 of these mutations have not been described before and only one mutation was found in two families.
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Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus
TL;DR: This work analysed 13 SPG4‐negative families for mutations in the SPG3A gene and identified a mutation in 38% of families, two of which are novel and found both in a family with early onset of symptoms and in a late onset family.
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Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein.
Ashraf U. Mannan,Johann Boehm,Simone M. Sauter,Anne Rauber,Paula C. Byrne,Juergen Neesen,Wolfgang Engel +6 more
TL;DR: These findings strengthen the hypothesis that disruption of intracellular vesicular transport processes could cause HSP and consider RTN1 as a candidate gene for the SPG15 locus, but the mutational analysis possibly excludes RTN 1 as causative gene.
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An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype
TL;DR: A 27-year-old man was referred for chromosome analysis due to infertility caused by azoospermia and revealed an apparently balanced translocation between chromosomes 1, 3, 9 and 14 as well as an additional inverted insertion of 3q material with a total of eight breakpoints.
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