Learn More
Emblica officinalis Gaertn. is one of the most important plants of Ayurved, the traditional Indian medicine. In this ancient medicine, the fruit of Emblica officinalis is processed according to a method named "Svaras Bhavana", whereby the therapeutic potential of the plant is enhanced by treating the main herb with its own juice. For many years, the(More)
Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogeneous group of myopathies, including autosomal dominant and recessive forms. To date, two autosomal dominant forms have been recognized: LGMD1A, linked to chromosome 5q, and LGMD1B, associated with cardiac defects and linked to chromosome 1q11-21. Here we describe eight patients(More)
The geographical distribution of Withania somnifera (L.) Dunal is quite wide. However, in Italy, this species is very rare and grows spontaneously only in Sicily and in Sardinia. The PCR-RAPD technique has been utilized in this work to determine the genetic relationship among Sicilian, Sardinian and Indian samples and the HPLC analysis of whitaferin A was(More)
We initiated the present work as part of an effort to identify and characterize genes from the EST2-HMG14 region from human chromosome 21 potentially responsible for some of the Down syndrome (DS) features. Genomic sample sequencing with cosmid clone A1047 located in the ETS2-HMG14 region of chromosome 21 has led to the identification and sequencing of a(More)
A lot of medicinal plants, traditionally used for thousands of years, are present in a group of herbal preparations of the Indian traditional health care system (Ayurveda) named Rasayana proposed for their interesting antioxidant activities. Among the medicinal plants used in ayurvedic Rasayana for their therapeutic action, some of these have been throughly(More)
Abnormal and excessive accumulation of the amyloid beta-peptide (A beta) in the brain is a major and common characteristic of all Alzheimer's disease (AD) forms irrespective of their genetic background. Insoluble aggregates of A beta are identified as amyloid plaques. These deposits are thought to form when the amount of A beta is increased in the brain(More)
We report the cloning of the human homologue of the rat metalloprotease N-arginine dibasic convertase (NRD convertase). This endopeptidase is responsible for the processing, at the Arg-Lys dibasic site on the N-terminal side of the arginine residue, of propeptides and proproteins. Comparisons of the human and rat full-length cDNAs show similarity and(More)
The usefulness of antigliadin (AGA) and antiendomysium antibodies (EMA) as a screening test for coeliac disease (CD) in 113 Down syndrome (DS) patients (61 children) was evaluated. AGA IgA were present in 22.1%, AGA IgG in 48.6%, EMA in 6.2%. Four symptomatic patients, AGA- and EMA-positive, were affected by CD (3.5%). In three AGA-positive and EMA-positive(More)
The identification and functional characterization of genes on chromosome 21 is a necessary step to understand the pathogenesis of the various phenotypic anomalies that affect Down syndrome patients. Using direct cDNA selection we have identified a new gene, SH3BGR, that maps to 21q22.3, proximal to HMG14, and is differentially expressed in heart and(More)
As part of an effort to identify genes potentially involved in the Down Syndrome pathogenesis, in this paper we report the identification and characterization of a new human gene (named SH3BGRL), which shows a high homology to the SH3BGR gene, previously mapped to the Down Syndrome region of chromosome 21. The SH3BGRL gene encodes for a small protein of 114(More)