In the first part the properties of normal mammalian sphingomyelinases are reviewed: The lysosomal acid sphingomyelinase is a polymeric glycoprotein (subunit Mr between 28 000 and 70 000) which hydrolyses natural sphingomyelin, coloured and fluorescent semi-synthetic analogues (trinitrophenyl-aminolauryl-sphingomyelin and pyrenedecanoyl-sphingomyelin) and the synthetic analogue 2-N-hexadecanoyl...

Despite being a critical molecule in the brain, mass spectrometry imaging (MSI) of cholesterol has been under-reported compared to other lipids due difficulty ionizing sterol molecule. In present work, we have employed an on-tissue enzyme-assisted derivatization strategy improve detection brain tissue sections. We report distribution and levels across specific structures mouse model Niemann-Pic...

Chunky Parser Manuela Boros1, J urgen Haas2, Elmar N oth2, Volker Warnke2, Heinrich Niemann2 1 Bavarian Research Center for Knowledge Based Systems (FORWISS) Am Weichselgarten 7 D-91058 Erlangen Germany email: [email protected] 2 University of Erlangen-N urnberg Chair for Pattern Recognition Martensstra e 3 D-91058 Erlangen Germany email: (haas,noeth,warnke,niemann)@informatik.un...

Journal: Biochemistry and Cell Biology Manuscript ID bcb-2015-0154.R1 Manuscript Type: Invited Review Date Submitted by the Author: 19-Jan-2016 Complete List of Authors: Maxfield, Frederick; Weill Cornell Medical College, Biochemistry Iaea, David; Weill Cornell Medical College, Pipalia, Nina; Weill Cornell Medical College, Biochemistry Keyword: Cholesterol, STARD4, lipoproteins, Niemann-Pick C,...

Generalized lichen nitidus is an uncommon chronic inflammatory dermatosis with very characteristic histological findings. Its pathogenesis is still unclear; very rarely it has been associated with genetic disorders. Herein we report the case of a 12-year-old boy with Niemann-Pick disease who developed generalized lichen nitidus.

Rare disease represents one of the most significant issues facing the medical community and health care providers worldwide, yet the majority of these disorders never emerge from their obscurity, drawing little attention from the medical community or the pharmaceutical industry. The challenge therefore is how best to mobilize rare disease stakeholders to enhance basic, translational and clinica...