JIMD Reports, Volume 25
Springer Berlin Heidelberg
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Timeline
Mendeley readers
| Chapter title |
The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease
|
|---|---|
| Chapter number | 454 |
| Book title |
JIMD Reports, Volume 25
|
| Published in |
JIMD Reports, January 2015
|
| DOI | 10.1007/8904_2015_454 |
| Pubmed ID | |
| Book ISBNs |
978-3-66-249667-1, 978-3-66-249668-8
|
| Authors |
Mahdi Amiri, Eva-Maria Kuech, Hadeel Shammas, Gabi Wetzel, Hassan Y. Naim, Amiri, Mahdi, Kuech, Eva-Maria, Shammas, Hadeel, Wetzel, Gabi, Naim, Hassan Y. |
| Abstract |
The molecular basis of gastrointestinal intolerances in a severe case of Niemann-Pick type C disease was analyzed in an intestinal biopsy specimen. The enzyme activities of intestinal sucrase-isomaltase and maltase-glucoamylase are reduced in the patient, while that of lactase is comparable to the control. The association of SI with lipid rafts is reduced in the patient's biopsy as a consequence of altered composition of membrane microdomains. As association with lipid rafts influences the intracellular transport and the enzyme activities of sucrase-isomaltase and maltase-glucoamylase, these data explain reduced carbohydrate digestion in the intestinal lumen and delineate the effect of deficient cholesterol and sphingolipid homeostasis in development of gastrointestinal symptoms in NPC patients. |
Mendeley readers
The data shown below were compiled from readership statistics for 13 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 13 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 2 | 15% |
| Researcher | 2 | 15% |
| Lecturer | 1 | 8% |
| Lecturer > Senior Lecturer | 1 | 8% |
| Student > Ph. D. Student | 1 | 8% |
| Other | 1 | 8% |
| Unknown | 5 | 38% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 3 | 23% |
| Biochemistry, Genetics and Molecular Biology | 2 | 15% |
| Medicine and Dentistry | 1 | 8% |
| Unknown | 7 | 54% |