Lena Diekmann

Functional variants in the sucrase–isomaltase gene associate with increased risk of irritable bowel syndrome

Pontus Karling, Matteo Neri, Eva‐Maria Kuech, Ottmar DIstl et autres

IBS is a common gut disorder of uncertain pathogenesis. Among other factors, genetics and certain foods are proposed to contribute. Congenital sucrase-isomaltase deficiency (CSID) is a rare genetic form of disaccharide malabsorption characterised by diarrhoea, abdominal pain and bloating, which are features …

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Structural determinants for transport of lactase phlorizin-hydrolase in the early secretory pathway as a multi-domain membrane glycoprotein General subjects

Lena Diekmann, Marc Behrendt, Mahdi Amiri, Hassan Y. Naim

Lactase phlorizin-hydrolase (LPH) is a membrane anchored type I glycoprotein of the intestinal epithelium that is composed of four homologous structural domains. The role of each distinct domain in the intramolecular organization and function of LPH is not completely understood.Here, we analyzed …

Functional variants in the sucrase–isomaltase gene associate with increased risk of irritable bowel syndrome

Maria Henström, Lena Diekmann, Ferdinando Bonfiglio, Fatemeh Hadizadeh et autres

Objective IBS is a common gut disorder of uncertain pathogenesis. Among other factors, genetics and certain foods are proposed to contribute. Congenital sucrase–isomaltase deficiency (CSID) is a rare genetic form of disaccharide malabsorption characterised by diarrhoea, abdominal pain and bloating, which are …

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Structural determinants for transport of lactase phlorizin-hydrolase in the early secretory pathway as a multi-domain membrane glycoprotein

Lena Diekmann, Marc Behrendt, Mahdi Amiri, Hassan Y. Naim

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The concerted action of multiple post-translational events regulates the trafficking and function of wild type and mutant disaccharidases

Lena Diekmann

Lactose is the main carbohydrate of mammalian milk. For its uptake into the cell previous hydrolysis into the monosaccharides glucose and galactose is required, which is mediated by lactase-phlorizin hydrolase (LPH). LPH, the only β-galactosidase of the brush border membrane in the …

The Diverse Forms of Lactose Intolerance and the Putative Linkage to Several Cancers

Mahdi Amiri, Lena Diekmann, Maren von Köckritz‐Blickwede, Hassan Y. Naim

Lactase-phlorizin hydrolase (LPH) is a membrane glycoprotein and the only β-galactosidase of the brush border membrane of the intestinal epithelium. Besides active transcription, expression of the active LPH requires different maturation steps of the polypeptide through the secretory pathway, including N- and …

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Compound heterozygous mutations elicit congenital lactase deficiency in a Japanese infant

Lena Diekmann, Katrin Pfeiffer, Hassan Y. Naim

Congenital lactase deficiency (CLD) is a rare severe autosomal recessive disorder, with symptoms like watery diarrhea, meteorism and malnutrition, which start a few days after birth by the onset of nursing. The most common rationales identified for this disorder are missense mutations …

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Congenital lactose intolerance is triggered by severe mutations on both alleles of the lactase gene

Lena Diekmann, Katrin Pfeiffer, Hassan Y. Naim

BACKGROUND: Congenital lactase deficiency (CLD) is a rare severe autosomal recessive disorder, with symptoms like watery diarrhea, meteorism and malnutrition, which start a few days after birth by the onset of nursing. The most common rationales identified for this disorder are missense …

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Potential association between irritable bowel syndrome and the gene encoding human intestinal sucrase‐isomaltase (LB131)

Lena Diekmann, Eva‐Maria Kuech, Ute Phillip, O. Distl et autres

Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder characterized by abdominal pain and alterations in bowel pattern with a prevalence of 10‐15 % in humans. The molecular basis of IBS is not well understood. We sequenced the coding region of …

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Presence or Re-Appearance of BCR-ABL-Positive Cells Years after Allogeneic Bone Marrow Transplantation for Chronic-Phase Chronic Myelogenous Leukemia in Patients in Hematological Remission

Lena Diekmann, Dietrich Wilhelm Beelen, K. Quabeck, R. Becher et autres

Allogeneic bone marrow transplantation (BMT) is considered to be the only curative therapy for chronic myelogenous leukemia (CML). The cytogenetic marker of CML, the Philadelphia (Ph) chromosome, or the molecular alterations caused by the BCR-ABL gene fusion can be used to monitor …

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Author Index, Vol. 92, 1994

G. Kende, Amos Toren, Michel R. Mandel, Yoram Neumann et autres

Verhalten der Elektrolyte beim akuten hämolytisch-urämischen Syndrom. Untersuchungen im Serum und in Erythrozyten

Lena Diekmann, K. Bonzel, Hans Georg Koch

Sodium, postassium and magnesium were measured in serum resp. plasma and in erythrozytes of oliguricanuric children with akute haemolytic uraemic syndrome (HUS). Potassium was in serum resp. plasma and in red cells in normal range or decreased compared with other forms of …

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