Björn Reusch

Biochemistry, Genetics and Molecular Biology · Life Sciences

4h-index241citations15works1.22yr avg
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Research Topics

Glycosylation and Glycoproteins Research(3), Ion Transport and Channel Regulation(3), Kidney Stones and Urolithiasis Treatments(2), Pediatric Urology and Nephrology Studies(2), Viral Infectious Diseases and Gene Expression in Insects(2)

Publications15 total

Intermittent dark urine in a school-aged boy: a case of alkaptonuria
Kidney International·2026Open Access
Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment
Nature Communications·2025Open Access
Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene
Human Genetics and Genomics Advances·2025Open Access
Effective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria
Kidney International Reports·2024· 4 citedOpen Access
<i>Cosmc</i> regulates O-glycan extension in murine hepatocytes
Glycobiology·2024· 2 citedOpen Access
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions
Genome Medicine·2023· 2 citedOpen Access
Germline <i>C1GALT1C1</i> mutation causes a multisystem chaperonopathy
Proceedings of the National Academy of Sciences·2023· 16 citedOpen Access
Baculovirus Actin Rearrangement-Inducing Factor 1 Can Remodel the Mammalian Actin Cytoskeleton
Microbiology Spectrum·2023· 2 citedOpen Access
Baculovirus Actin Rearrangement-Inducing Factor 1 Can Remodel the Mammalian Actin Cytoskeleton
JuSER Publikationsportal·2023Open Access
Triosephosphate-Isomerase Deficiency: Epiphenomenon or Cause of Loin Pain Haematuria Syndrome?
Case Reports in Nephrology and Dialysis·2022Open Access
Modeling of ACTN4-Based Podocytopathy Using Drosophila Nephrocytes
Kidney International Reports·2022· 16 citedOpen Access
Germline C1GALT1C1 Mutation Causes a Multisystemic Chaperonopathy with Global Deficiency of Core 1-derived O-Glycosylation
2022Open Access
MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells
Journal of Proteomics·2021· 3 citedOpen Access
Translation inhibition corrects aberrant localization of mutant alanine-glyoxylate aminotransferase: possible therapeutic approach for hyperoxaluria
Journal of Molecular Medicine·2018· 15 cited
Polyhydramnios, Transient Antenatal Bartter’s Syndrome, and<i>MAGED2</i>Mutations
New England Journal of Medicine·2016· 181 citedOpen Access

Frequent Co-authors

Bodo B. Beck(12), Janine Altmüller(6), Andrea Wenzel(5), Markus M. Rinschen(5), Malte P. Bartram(4), Sandra Habbig(4), Florian Erger(4), Hölger Thiele(3), Thomas Benzing(3), Rajindra P. Aryal(3), Yasuyuki Matsumoto(3), Maxence Noël(3), Stefan Kohl(3), Nikolai Tschernoster(3), Richard D. Cummings(3), Heike Göbel(2), Peter Nürnberg(2), Karl P. Schlingmann(2), Martin Kömhoff(2), Bernhard Schermer(2)