pelizaeus-merzbacher disease/carbohydrate

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A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.

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Sphingolipid activator proteins (saposins A, B, C and D) are small homologous glycoproteins derived from a common precursor protein (prosaposin) encoded by a single gene. They are required for in vivo degradation of sphingolipids with short carbohydrate chains. Six cysteines and one glycosylation

Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease.

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Pelizaeus-Merzbacher disease (PMD) is an untreatable and fatal leukodystrophy. In a model of PMD with perturbed blood-brain barrier integrity, cholesterol supplementation promotes myelin membrane growth. Here, we show that in contrast to the mouse model, dietary cholesterol in two PMD patients did

Serotonin reuptake inhibitors for the treatment of premenstrual dysphoria.

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Premenstrual dysphoria (PMD) is a severe form of premenstrual syndrome, afflicting approximately 5% of all women of fertile age. The cardinal symptoms are irritability and anger. In addition, sadness, tension and carbohydrate craving are common complaints. The symptoms surface regularly between

Synthesis and structure-activity relationships of cerebroside analogues as substrates of cerebroside sulphotransferase and discovery of a competitive inhibitor

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Metachromatic leukodystrophy (MLD) is a rare genetic disease characterised by a dysfunction of the enzyme arylsulphatase A leading to the lysosomal accumulation of cerebroside sulphate (sulphatide) causing subsequent demyelination in patients. The enzyme galactosylceramide (cerebroside)

Adult onset lysosomal storage disease in a Tibetan terrier: clinical, morphological and biochemical studies.

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We describe a novel late-onset lysosomal lipid storage disease affecting a Tibetan terrier. The principal clinical manifestations include visual loss, progressive cerebellar ataxia and dementia. A necropsy of an affected 10-year-old dog demonstrated cerebellar atrophy. Histological analysis revealed

Electron microscopic methods for the demonstration of lectin-binding sites in cancer cell lines.

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The use of lectins (1) in electron microscoplcal histochemistry enables specific questions to be answered about the distribution of carbohydrates in cellular and extracellular components. For example, the occurrence of defined carbohydrate residues in particular stacks of the Golgi apparatus (2), or

Synthesis and processing of arylsulfatase A in human skin fibroblasts.

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Biosynthesis of arylsulfatase A in normal and mutant human fibroblasts was studied by growing cells in the presence of L-[4,5-3H] leucine or [2-3H] mannose, isolation of labelled arylsulfatase A by immune precipitation and visualization of electrophoretically separated polypeptide by fluorography.

Histochemical similarities between human and animal globoid cells in Krabbe's disease: a lectin study.

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Lectin-histochemical studies were performed on paraffin-embedded brain tissue sections to identify the specific sugar residues of undegraded "stored" substances in the cytoplasm of globoid cells from patients with globoid cell leukodystrophy. We studied brain tissues from six human patients with

Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency.

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Deficient arylsulfatase-A activity is diagnostic of a neurodegenerative human lysosomal storage disease, metachromatic leukodystrophy. Paradoxically, similar enzyme deficiency also occurs in normal individuals, who are known as being pseudo arylsulfatase-A deficient. We showed previously that this

Food combination based on a pre-hispanic Mexican diet decreases metabolic and cognitive abnormalities and gut microbiota dysbiosis caused by a sucrose-enriched high-fat diet in rats.

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There is few information about the possible health effects of a food combination based on a pre-hispanic Mexican diet (PMD). This diet rich in fiber, polyphenols, a healthy ratio of omega 6/omega 3 fatty acids, and vegetable protein could improve carbohydrate and lipid metabolism, gut microbiota and

Premenstrual syndrome and beyond: lifestyle, nutrition, and personal facts.

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OBJECTIVE The aim was to study prevalence of menstrual symptoms and their presenting patterns, and to assess nutrition and behaviours correlates. METHODS The study enrolled 108 women, who were prospectively assessed for menstrual symptoms; a 212 items questionnaire about lifestyle and nutrition was

A possible cranio-oro-facial phenotype in Cockayne syndrome.

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BACKGROUND Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral

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