Protein-sphingolipid interactions and their role in immunity and disease [PDF]
, 2021 Sphingolipids are a diverse class of lipids involved in fundamental cellular processes. In addition to their role in membrane architecture, sphingolipids can act as bioactive molecules, regulate membrane protein function and be presented to the immune ...
Shamin, Maria
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The Conserved nhaAR Operon Is Drastically Divergent between B2 and Non-B2 Escherichia coli and Is Involved in Extra-Intestinal Virulence [PDF]
, 2014 The Escherichia coli species is divided in phylogenetic groups that differ in their virulence and commensal distribution. Strains belonging to the B2 group are involved in extra-intestinal pathologies but also appear to be more prevalent as commensals ...
Cruveiller, S +10 more
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Metachromatic Leukodystrophy Clinical, Biological and Therapeutic Aspects [PDF]
, 2012 Non
Abdelhedi Miled +3 more
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Clinical, biochemical and molecular characterization of prosaposin deficiency [PDF]
, 2016 Prosaposin (PSAP) deficiency is an ultra-rare, fatal infantile lysosomal storage disorder (LSD) caused by variants in the PSAP gene, with 7 subjects reported so far.
Burlina A. +10 more
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Alkaline Phosphatases: Structure, substrate specificity and functional relatedness to other members of a large superfamily of enzymes [PDF]
, 2006 Our knowledge of the structure and function of alkaline phosphatases has increased greatly in recent years. The crystal structure of the human placental isozyme has enabled us to probe salient features of the mammalian enzymes that differ from those of ...
A Kozlenkov +49 more
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Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice [PDF]
, 2008 Saposin B derives from the multi-functional precursor, prosaposin, and functions as an activity enhancer for several glycosphingolipid (GSL) hydrolases. Mutations in saposin B present in humans with phenotypes resembling metachromatic leukodystrophy.
Azuma +47 more
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Sulfatide activator protein : alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease [PDF]
, 1991 The sulfatide activator protein, also known as SAP-1, is derived from a gene that generates an mRNA coding for four homologous proteins. Its physiological function is to stimulate hydrolysis of sulfatide by arylsulfatase A in vivo.
Harzer, K +5 more
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Lysosomal storage diseases [PDF]
, 2017 Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include
Ferreira, Carlos, Gahl, William
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The lipid transfer protein Saposin B does not directly bind CD1d for lipid antigen loading. [PDF]
, 2019 Background: Lipid antigens are presented on the surface of cells by the CD1 family of glycoproteins, which have structural and functional similarity to MHC class I molecules.
Benedyk, Tomasz H +3 more
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Combinatorial omics analysis reveals perturbed lysosomal homeostasis in collagen VII-deficient keratinocytes [PDF]
, 2018 The extracellular matrix protein collagen VII is part of the microenvironment of stratified epithelia and critical in organismal homeostasis. Mutations in the encoding gene COL7A1 lead to the skin disorder dystrophic epidermolysis bullosa (DEB), are ...
Athanasiou, Ioannis +13 more
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