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Cordula Steglich
Researcher at University of Hamburg
Publications - 13
Citations - 647
Cordula Steglich is an academic researcher from University of Hamburg. The author has contributed to research in topics: Missense mutation & Point mutation. The author has an hindex of 12, co-authored 13 publications receiving 617 citations.
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Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common α-L-iduronidase mutations (W402X and Q70X) among European patients
Susanna Bunge,Wim J. Kleijer,Cordula Steglich,Michael Beck,Zuther C,Charles P. Morris,Eberhard Schwinger,John J. Hopwood,Hamish S. Scott,Andreas Gal +9 more
TL;DR: A group of 46 European patients with mucopolysaccharidosis type I was screened for mutations of the alpha-L-iduronidase gene and the 2 common nonsense mutations, W402X and Q70X, were identified in 37% and 35% of mutant alleles.
Journal ArticleDOI
LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein.
Stephanie Schlickum,Abhay Moghekar,Jeremy C. Simpson,Cordula Steglich,Richard O'Brien,Andreas Winterpacht,Andreas Winterpacht,Sabine Endele,Sabine Endele +8 more
TL;DR: Information about a possible function for LETM1 is presented and it is suggested that at least some (neuromuscular) features of WHS may be caused by mitochondrial dysfunction.
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Identification of 31 novel mutations in the N‐acetylgalactosamine‐6‐sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome
Susanna Bunge,Wim J. Kleijer,Anna Tylki-Szymańska,Cordula Steglich,Michael Beck,Shunji Tomatsu,Seiji Fukuda,Ben J. H. M. Poorthuis,Barbara Czartoryska,Tadao Orii,Andreas Gal +10 more
TL;DR: Mutation analysis of the N‐acetylgalactosamine‐6‐sulfate sulfatase gene was performed in patients with mucopolysaccharidosis type IVA from 33 families, mainly of European origin, and found the vast majority of the gene alterations proved to be point mutations.
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Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).
Susanna Bunge,Cordula Steglich,Zuther C,Michael Beck,Charles P. Morris,Eberhard Schwinger,Albert Schinzel,John J. Hopwood,Andreas Gal +8 more
TL;DR: Mutations of the iduronate-2-sulfatase gene were identified in 16 patients with mucopolysaccharidosis type II (Hunter syndrome) and molecular analysis of mRNA in splice site mutants showed that these latter defects frequently resulted in use of cryptic splice sites in exons or introns.
Journal ArticleDOI
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).
Susanna Bunge,Hüseyin Ince,Cordula Steglich,Wim J. Kleijer,Michael Beck,Jacek Zaremba,Otto P. van Diggelen,Birgit Weber,John J. Hopwood,Andreas Gal +9 more
TL;DR: Screening for the combined frequency of the common mutations R74C and R245H in German and Polish populations exceeds 55%, screening for these two mutations will assist molecular genetic diagnosis of MPS IIIA and allow heterozygote testing in these populations.