Lars Schlotawa

Lars Schlotawa

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Lars Schlotawa

Lars Schlotawa

Publications by authors named "Lars Schlotawa"

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Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia.

Biol Open 2020 May 7;9(5). Epub 2020 May 7.

Department of Pediatrics and Adolescent Medicine, University Medical Center Goettingen, Robert- Koch- Str. 40, 37075 Goettingen, Germany

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http://dx.doi.org/10.1242/bio.049239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7225086PMC
May 2020

Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.

Int J Mol Sci 2020 May 13;21(10). Epub 2020 May 13.

The Children's Hospital of Philadelphia, Division of Human Genetics and Metabolism, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.3390/ijms21103448DOI Listing
May 2020

Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.

JIMD Rep 2019 Sep 20;49(1):48-52. Epub 2019 Aug 20.

Department of Paediatrics and Adolescent Medicine University Medical Center Göttingen Göttingen Germany.

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http://dx.doi.org/10.1002/jmd2.12074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718111PMC
September 2019

Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase.

Cell Rep 2018 07;24(1):27-37.e4

Department of Chemistry, Biochemistry I, Bielefeld University, Universitätsstraße 25, 33615 Bielefeld, Germany; Department of Cellular Biochemistry, University of Göttingen, Humboldtallee 23, 37073 Göttingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2018.06.016DOI Listing
July 2018

Autophagy and Neurodegeneration: Pathogenic Mechanisms and Therapeutic Opportunities.

Neuron 2017 Mar;93(5):1015-1034

Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge Biomedical Campus, Wellcome Trust/MRC Building, Cambridge Biomedical Campus, Hills Road, Cambridge CB2 0XY, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2017.01.022DOI Listing
March 2017

The expanding clinical and genetic spectrum of ATP1A3-related disorders.

Neurology 2014 Mar 12;82(11):945-55. Epub 2014 Feb 12.

From the Department of Pediatrics and Adolescent Medicine (H.R., A.O., P.H., L.S., R.S., J.G., K.B.), Division of Pediatric Neurology, University Medical Center Göttingen, Georg August University; Department of Pediatrics (M.B.), Hospital Dritter Orden, Munich, Germany; Departments of Pediatric Neurology (I.C.), Hospital Maria Pia do Centro Hospitalar do Porto, Portugal; 4IRCCS Stella Maris (S.F.), Calambrone, Pisa; Department of Clinical and Experimental Medicine (S.F.), University of Pisa, Italy; Neurogenetics Unit (C.M.L.), Department of Neurology, School of Medicine of Ribeirao Preto, University of Sao Paulo, Brazil; and Children's Hospital of Eastern Ontario (S.S.), Ottawa, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000000212DOI Listing
March 2014

Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.

Eur J Hum Genet 2013 Sep 16;21(9):1020-3. Epub 2013 Jan 16.

Department of Pediatrics and Pediatric Neurology, Georg August University Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2012.291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3746267PMC
September 2013

Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.

Hum Mutat 2008 Jan;29(1):205

Department of Pediatrics and Pediatric Neurology, Georg August University Göttingen, Göttingen, Germany.

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http://doi.wiley.com/10.1002/humu.9515
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http://dx.doi.org/10.1002/humu.9515DOI Listing
January 2008