Hofer, Sabine

[["dc.bibliographiccitation.issue","10"],["dc.bibliographiccitation.journal","Translational Psychiatry"],["dc.bibliographiccitation.volume","7"],["dc.contributor.author","Mitjans, M."],["dc.contributor.author","Begemann, M."],["dc.contributor.author","Ju, A."],["dc.contributor.author","Dere, E."],["dc.contributor.author","Wüstefeld, L."],["dc.contributor.author","Hofer, S."],["dc.contributor.author","Hassouna, I."],["dc.contributor.author","Balkenhol, J."],["dc.contributor.author","Oliveira, B."],["dc.contributor.author","van der Auwera, S."],["dc.contributor.author","Tammer, R."],["dc.contributor.author","Hammerschmidt, K."],["dc.contributor.author","Völzke, H."],["dc.contributor.author","Homuth, G."],["dc.contributor.author","Cecconi, F."],["dc.contributor.author","Chowdhury, K."],["dc.contributor.author","Grabe, H."],["dc.contributor.author","Frahm, J."],["dc.contributor.author","Boretius, S."],["dc.contributor.author","Dandekar, T."],["dc.contributor.author","Ehrenreich, Hannelore"],["dc.date.accessioned","2018-03-08T09:22:12Z"],["dc.date.available","2018-03-08T09:22:12Z"],["dc.date.issued","2017"],["dc.description.abstract","Ambra1 is linked to autophagy and neurodevelopment. Heterozygous Ambra1 deficiency induces autism-like behavior in a sexually dimorphic manner. Extraordinarily, autistic features are seen in female mice only, combined with stronger Ambra1 protein reduction in brain compared to males. However, significance of AMBRA1 for autistic phenotypes in humans and, apart from behavior, for other autism-typical features, namely early brain enlargement or increased seizure propensity, has remained unexplored. Here we show in two independent human samples that a single normal AMBRA1 genotype, the intronic SNP rs3802890-AA, is associated with autistic features in women, who also display lower AMBRA1 mRNA expression in peripheral blood mononuclear cells relative to female GG carriers. Located within a non-coding RNA, likely relevant for mRNA and protein interaction, rs3802890 (A versus G allele) may affect its stability through modification of folding, as predicted by in silico analysis. Searching for further autism-relevant characteristics in Ambra1+/− mice, we observe reduced interest of female but not male mutants regarding pheromone signals of the respective other gender in the social intellicage set-up. Moreover, altered pentylentetrazol-induced seizure propensity, an in vivo readout of neuronal excitation–inhibition dysbalance, becomes obvious exclusively in female mutants. Magnetic resonance imaging reveals mild prepubertal brain enlargement in both genders, uncoupling enhanced brain dimensions from the primarily female expression of all other autistic phenotypes investigated here. These data support a role of AMBRA1/Ambra1 partial loss-of-function genotypes for female autistic traits. Moreover, they suggest Ambra1 heterozygous mice as a novel multifaceted and construct-valid genetic mouse model for female autism."],["dc.identifier.doi","10.1038/tp.2017.213"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/14806"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/12914"],["dc.language.iso","en"],["dc.notes.intern","GRO-Li-Import"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","final"],["dc.relation.doi","10.1038/tp.2017.213"],["dc.relation.issn","2158-3188"],["dc.relation.issn","2158-3188"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.title","Sexual dimorphism of AMBRA1-related autistic features in human and mouse"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.journal","Frontiers in Neurology"],["dc.bibliographiccitation.volume","11"],["dc.contributor.author","Maier, Ilko L."],["dc.contributor.author","Hofer, Sabine"],["dc.contributor.author","Eggert, Eva"],["dc.contributor.author","Schregel, Katharina"],["dc.contributor.author","Psychogios, Marios-Nikos"],["dc.contributor.author","Frahm, Jens"],["dc.contributor.author","Bähr, Mathias"],["dc.contributor.author","Liman, Jan"],["dc.date.accessioned","2021-04-14T08:31:11Z"],["dc.date.available","2021-04-14T08:31:11Z"],["dc.date.issued","2020"],["dc.description.abstract","Age-related degeneration of the cervical spinal column is the most common cause of spinal cord lesions. T1 mapping has been shown to indicate the grade and site of spinal cord compression in low grade spinal canal stenosis (SCS). Aim of our study was to further investigate the diagnostic potential of a novel T1 mapping method at 0.75 mm resolution and 4 s acquisition time in 31 patients with various grades of degenerative cervical SCS. T1 mapping was performed in axial sections of the stenosis as well as above and below. Included subjects received standard T2-weighted MRI of the cervical spine (including SCS-grading 0-III), electrophysiological, and clinical examination. We found that patients with cervical SCS showed a significant difference in T1 relaxation times within the stenosis (727 ± 66 ms, mean ± standard deviation) in comparison to non-stenotic segments above (854 ± 104 ms, p \\u0026lt; 0.001) and below (893 ± 137 ms, p \\u0026lt; 0.001). There was no difference in mean T1 in non-stenotic segments in patients (p = 0.232) or between segments in controls (p = 0.272). Mean difference of the T1 relaxation times was significantly higher in grade III stenosis (234 ± 45) vs. in grade II stenosis (176 ± 45, p = 0.037) vs. in grade I stenosis (90 ± 87 ms, p = 0.010). A higher difference in T1 relaxation time was associated with a central efferent conduction deficit. In conclusion, T1 mapping may be useful as a tool for SCS quantification in all grades of SCS, including high-grade stenosis with myelopathy signal in conventional T2-weighted imaging."],["dc.identifier.doi","10.3389/fneur.2020.574604"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/83508"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-399"],["dc.publisher","Frontiers Media S.A."],["dc.relation.eissn","1664-2295"],["dc.rights","http://creativecommons.org/licenses/by/4.0/"],["dc.title","T1 Mapping Quantifies Spinal Cord Compression in Patients With Various Degrees of Cervical Spinal Canal Stenosis"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","528"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","EMBO Molecular Medicine"],["dc.bibliographiccitation.lastpage","539"],["dc.bibliographiccitation.volume","4"],["dc.contributor.author","Hagemeyer, Nora"],["dc.contributor.author","Goebbels, Sandra"],["dc.contributor.author","Papiol, Sergi"],["dc.contributor.author","Kästner, Anne"],["dc.contributor.author","Hofer, Sabine"],["dc.contributor.author","Begemann, Martin"],["dc.contributor.author","Gerwig, Ulrike C."],["dc.contributor.author","Boretius, Susann"],["dc.contributor.author","Wieser, Georg L."],["dc.contributor.author","Ronnenberg, Anja"],["dc.contributor.author","Gurvich, Artem"],["dc.contributor.author","Heckers, Stephan H."],["dc.contributor.author","Frahm, Jens"],["dc.contributor.author","Nave, Klaus-Armin"],["dc.contributor.author","Ehrenreich, Hannelore"],["dc.date.accessioned","2017-08-25T10:14:17Z"],["dc.date.available","2017-08-25T10:14:17Z"],["dc.date.issued","2012"],["dc.description.abstract","Severe mental illnesses have been linked to white matter abnormalities, documented by postmortem studies. However, cause and effect have remained difficult to distinguish. CNP (2',3'-cyclic nucleotide 3'-phosphodiesterase) is among the oligodendrocyte/myelin-associated genes most robustly reduced on mRNA and protein level in brains of schizophrenic, bipolar or major depressive patients. This suggests that CNP reduction might be critical for a more general disease process and not restricted to a single diagnostic category. We show here that reduced expression of CNP is the primary cause of a distinct behavioural phenotype, seen only upon aging as an additional 'pro-inflammatory hit'. This phenotype is strikingly similar in Cnp heterozygous mice and patients with mental disease carrying the AA genotype at CNP SNP rs2070106. The characteristic features in both species with their partial CNP 'loss-of-function' genotype are best described as 'catatonia-depression' syndrome. As a consequence of perturbed CNP expression, mice show secondary low-grade inflammation/neurodegeneration. Analogously, in man, diffusion tensor imaging points to axonal loss in the frontal corpus callosum. To conclude, subtle white matter abnormalities inducing neurodegenerative changes can cause/amplify psychiatric diseases."],["dc.identifier.doi","10.1002/emmm.201200230"],["dc.identifier.gro","3150560"],["dc.identifier.pmid","22473874"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/7776"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/7334"],["dc.language.iso","en"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","final"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","A myelin gene causative of a catatonia-depression syndrome upon aging"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dc.type.peerReviewed","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.issue","101639"],["dc.bibliographiccitation.journal","NeuroImage Clinical"],["dc.bibliographiccitation.volume","21"],["dc.contributor.author","Maier, Ilko L."],["dc.contributor.author","Hofer, Sabine"],["dc.contributor.author","Joseph, Arun A."],["dc.contributor.author","Merboldt, K.-Dietmar"],["dc.contributor.author","Eggert, Eva"],["dc.contributor.author","Behme, Daniel"],["dc.contributor.author","Schregel, Katharina"],["dc.contributor.author","Brelie, Christian von der"],["dc.contributor.author","Rohde, Veit"],["dc.contributor.author","Koch, Jan-Christoph"],["dc.contributor.author","Psychogios, Marios-Nikos"],["dc.contributor.author","Frahm, Jens"],["dc.contributor.author","Liman, Jan"],["dc.contributor.author","Bähr, Mathias"],["dc.date.accessioned","2019-07-09T11:50:09Z"],["dc.date.available","2019-07-09T11:50:09Z"],["dc.date.issued","2019"],["dc.description.abstract","BACKGROUND: Degenerative changes of the cervical spinal column are the most common cause of spinal cord lesions in the elderly. Conventional clinical, electrophysiological and radiological diagnostics of spinal cord compression are often inconsistent. MATERIALS AND METHODS: The feasibility and diagnostic potential of a novel T1 mapping method at 0.5 mm resolution and 4 s acquisition time was evaluated in 14 patients with degenerative cervical spinal canal stenosis (SCS) and 6 healthy controls. T1 mapping was performed in axial sections of the stenosis as well as above and below. All subjects received standard T2-weighted MRI of the cervical spine (including SCS-grading 0-III), electrophysiological and clinical examinations. RESULTS: Patients revealed significantly decreased T1 relaxation times of the compressed spinal cord within the SCS (912 ± 53 ms, mean ± standard deviation) in comparison to unaffected segments above (1027 ± 39 ms, p < .001) and below (1056 ± 93 ms, p < .001). There was no difference in mean T1 in unaffected segments in patients (p = .712) or between segments in controls (p = .443). Moreover, T1 values were significantly lower in grade II (881 ± 46 ms, p = .005) than in grade I SCS (954 ± 29 ms). Patients with central conduction deficit tended to have lower T1 values within the SCS than patients without (909 ± 50 ms vs 968 ± 7 ms, p = .069). CONCLUSION: Rapid high-resolution T1 mapping is a robust MRI method for quantifying spinal cord compression in patients with cervical SCS. It promises additional diagnostic insights and warrants more extended patient studies."],["dc.identifier.doi","10.1016/j.nicl.2018.101639"],["dc.identifier.pmid","30553763"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/15872"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/59713"],["dc.language.iso","en"],["dc.notes.intern","Merged from goescholar"],["dc.relation.issn","2213-1582"],["dc.rights","CC BY-ND 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by-nd/4.0"],["dc.subject.ddc","610"],["dc.title","Quantification of spinal cord compression using T1 mapping in patients with cervical spinal canal stenosis - Preliminary experience"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]