Search Results - "Hoelter, Sabine"
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Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6
Published in Proceedings of the National Academy of Sciences - PNAS (12-09-2006)“…Mammalian CLC proteins function as Cl − channels or as electrogenic Cl − /H + exchangers and are present in the plasma membrane and intracellular vesicles. We…”
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Deletion of SERF2 in mice delays embryonic development and alters amyloid deposit structure in the brain
Published in Life science alliance (01-07-2023)“…In age-related neurodegenerative diseases, like Alzheimer's and Parkinson's, disease-specific proteins become aggregation-prone and form amyloid-like deposits…”
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3
"Sighted C3H" mice--a tool for analysing the influence of vision on mouse behaviour?
Published in Frontiers in bioscience (01-05-2008)“…It is unclear what role vision plays in guiding mouse behaviour, since the mouse eye is of comparably low optical quality, and mice are considered to rely…”
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Dll1 haploinsufficiency in adult mice leads to a complex phenotype affecting metabolic and immunological processes
Published in PloS one (29-06-2009)“…The Notch signaling pathway is an evolutionary conserved signal transduction pathway involved in embryonic patterning and regulation of cell fates during…”
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Viable Ednra Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation
Published in Mammalian genome (01-12-2016)“…Animal models resembling human mutations are valuable tools to research the features of complex human craniofacial syndromes. This is the first report on a…”
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6
Iron homeostasis in the brain: complete iron regulatory protein 2 deficiency without symptomatic neurodegeneration in the mouse
Published in Nature genetics (01-09-2006)Get full text
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7
CIN85 regulates dopamine receptor endocytosis and governs behaviour in mice
Published in The EMBO journal (21-07-2010)“…Despite extensive investigations of Cbl‐interacting protein of 85 kDa (CIN85) in receptor trafficking and cytoskeletal dynamics, little is known about its…”
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Validation of Mct8/Oatp1c1 dKO mice as a model organism for the Allan-Herndon-Dudley Syndrome
Published in Molecular metabolism (Germany) (01-12-2022)“…The Allan-Herndon-Dudley syndrome (AHDS) is a severe disease caused by dysfunctional central thyroid hormone transport due to functional loss of the…”
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Impact of IVC housing on emotionality and fear learning in male C3HeB/FeJ and C57BL/6J mice
Published in Mammalian genome (01-03-2007)“…Housing conditions are known to influence laboratory animal behavior. However, it is not known whether housing mice in individually ventilated cages (IVCs) to…”
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Digital tools of analysis and data integration facilitate synergy between mouse and human brain research and enable translation
Published in Mammalian genome (01-12-2024)Get full text
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A Pathophysiological Intersection of Diabetes and Alzheimer's Disease
Published in International journal of molecular sciences (30-09-2022)“…Diabetes is among the most prevalent diseases of the modern world and is strongly linked to an increased risk of numerous neurodegenerative disorders, although…”
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Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders
Published in The EMBO journal (17-09-2014)“…Mutations in the cytosine‐5 RNA methyltransferase NSun2 cause microcephaly and other neurological abnormalities in mice and human. How post‐transcriptional…”
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Role of Mitochondrial Metabolism in the Control of Early Lineage Progression and Aging Phenotypes in Adult Hippocampal Neurogenesis
Published in Neuron (Cambridge, Mass.) (08-02-2017)“…Precise regulation of cellular metabolism is hypothesized to constitute a vital component of the developmental sequence underlying the life-long generation of…”
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Improving biomedical research by automated behaviour monitoring in the animal home cage - action needed for networking
Published in Laboratory animals (London) (01-02-2023)“…The key goal in biomedical research is a better understanding of disease aetiologies, which ideally results in strategies and recommendations for the…”
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A rationale for considering heart/brain axis control in neuropsychiatric disease
Published in Mammalian genome (01-06-2023)“…Neuropsychiatric diseases (NPD) represent a significant global disease burden necessitating innovative approaches to pathogenic understanding, biomarker…”
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Interplay between H1 and HMGN epigenetically regulates OLIG1&2 expression and oligodendrocyte differentiation
Published in Nucleic acids research (07-04-2017)“…An interplay between the nucleosome binding proteins H1 and HMGN is known to affect chromatin dynamics, but the biological significance of this interplay is…”
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Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss
Published in Acta neuropathologica (01-08-2017)“…Translation of the expanded (ggggcc) n repeat in C9orf72 patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) causes abundant…”
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Comparative Phenotyping of Mice Reveals Canonical and Noncanonical Physiological Functions of TRα and TRβ
Published in Endocrinology (Philadelphia) (01-07-2024)“…Abstract Thyroid hormone (TH) effects are mediated through TH receptors (TRs), TRα1, TRβ1, and TRβ2. The TRs bind to the DNA and regulate expression of TH…”
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A patient-enriched MEIS1 coding variant causes a restless legs syndrome-like phenotype in mice
Published in Sleep (New York, N.Y.) (10-05-2024)“…Abstract Restless legs syndrome (RLS) is a neurological disorder characterized by uncomfortable or unpleasant sensations in the legs during rest periods. To…”
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Alterations in neuronal control of body weight and anxiety behavior by glutathione peroxidase 4 deficiency
Published in Neuroscience (15-08-2017)“…Graphical abstract…”
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