Search Results - "Voltolini Velho, Renata"
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Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations
Published in Journal of human genetics (01-06-2016)“…Mucolipidosis (ML) III gamma is a rare autosomal-recessive disorder caused by pathogenic mutations in the GNPTG gene. GNPTG encodes the γ-subunit of…”
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2
Isolation and Characterization of Antifungal Peptides Produced by Bacillus amyloliquefaciens LBM5006
Published in The journal of microbiology (01-12-2010)“…Bacillus amyloliquefaciens LBM 5006 produces antagonistic activity against pathogenic bacteria and phytopathogenic fungi, including Aspergillus spp., Fusarium…”
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3
Neurogenic Inflammation in the Context of Endometriosis-What Do We Know?
Published in International journal of molecular sciences (03-12-2021)“…Endometriosis (EM) is an estrogen-dependent disease characterized by the presence of epithelial, stromal, and smooth muscle cells outside the uterine cavity…”
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4
Cannabis use in endometriosis: the patients have their say—an online survey for German-speaking countries
Published in Archives of gynecology and obstetrics (01-11-2024)“…Purpose Endometriosis is a chronic inflammatory disease that can cause various pain symptoms. Current therapy options do not always provide sufficient pain…”
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5
Endo Belly: What Is It and Why Does It Happen?—A Narrative Review
Published in Journal of clinical medicine (01-11-2023)“…Endometriosis is a chronic inflammatory disease where endometrial-like lesions settle outside the uterus, resulting in extensive inflammatory reactions. It is…”
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Endometriosis and Opioid Receptors: Are Opioids a Possible/Promising Treatment for Endometriosis?
Published in International journal of molecular sciences (13-01-2023)“…Endometriosis (EM), defined as the presence of endometrial-like tissue with surrounding smooth muscle cells outside the uterus, is a disregarded gynecological…”
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7
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations
Published in Human mutation (01-07-2019)“…Mutations in the GNPTAB and GNPTG genes cause mucolipidosis (ML) type II, type III alpha/beta, and type III gamma, which are autosomal recessively inherited…”
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Functional changes of immune cells: signal of immune tolerance of the ectopic lesions in endometriosis?
Published in Reproductive biomedicine online (01-08-2021)“…•Immune cells frequencies were not different between controls and EM patients•13 cytokines were increased in EM patients•Correlations between IL-2, MCP-1,…”
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Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells
Published in Molecular & cellular proteomics (01-08-2018)“…Targeting of soluble lysosomal enzymes requires mannose 6-phosphate (M6P) signals whose formation is initiated by the hexameric N-acetylglucosamine…”
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10
Distinct Modes of Balancing Glomerular Cell Proteostasis in Mucolipidosis Type II and III Prevent Proteinuria
Published in Journal of the American Society of Nephrology (01-08-2020)“…The mechanisms balancing proteostasis in glomerular cells are unknown. Mucolipidosis (ML) II and III are rare lysosomal storage disorders associated with…”
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11
In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts
Published in Genetics and molecular biology (01-01-2023)“…Mucolipidosis II and III (MLII and MLIII) are autosomal recessive diseases caused by pathogenic variants in GNPTAB and GNPTG genes that lead to defects in…”
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12
The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover
Published in Journal of bone and mineral research (01-12-2018)“…ABSTRACT Skeletal pathologies are frequently observed in lysosomal storage disorders, yet the relevance of specific lysosomal enzymes in bone remodeling cell…”
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13
Nociceptin/Orphanin FQ Opioid Peptide-Receptor Expression in the Endometriosis-Associated Nerve Fibers-Possible Treatment Option?
Published in Cells (Basel, Switzerland) (15-05-2023)“…Endometriosis (EM) is a chronic inflammatory disease affecting millions of women worldwide. Chronic pelvic pain is one of the main problems of this condition,…”
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14
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
Published in Genetics in medicine (01-12-2021)“…Purpose Pathogenic variants in GNPTAB and GNPTG , encoding different subunits of GlcNAc-1-phosphotransferase, cause mucolipidosis (ML) II, MLIII alpha/beta,…”
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15
Probiotic potential of Lactobacillus spp. isolated from Brazilian regional ovine cheese
Published in Journal of dairy research (01-02-2012)“…Twelve Lactobacillus isolates from Brazilian starter-free ovine cheeses were evaluated for their probiotic potential. The strains were identified by 16S rDNA…”
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Antimicrobial factor from Bacillus amyloliquefaciens inhibits Paenibacillus larvae, the causative agent of American foulbrood
Published in Archives of microbiology (01-03-2012)“…Bacillus amyloliquefaciens LBM 5006 produces an antimicrobial factor active against Paenibacillus larvae , a major honeybee pathogen. The antagonistic effect…”
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17
Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma
Published in Genetics and molecular biology (01-07-2019)“…Mucolipidosis II and III (ML II and III) alpha/beta and ML III gamma are lysosomal diseases caused by GlcNAc-1-phosphotransferase deficiency. Previous data…”
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The presence of sboA and spaS genes and antimicrobial peptides subtilosin A and subtilin among Bacillus strains of the Amazon basin
Published in Genetics and molecular biology (01-01-2013)“…This report demonstrates the usefulness of PCR for the genes spaS and sboA as a means of identifying Bacillus strains with a potential to produce subtilin and…”
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Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing
Published in Molecular genetics and metabolism reports (01-06-2017)Get full text
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20
Production of Proteolytic Enzymes by a Keratin-Degrading Aspergillus niger
Published in Enzyme Research (2011)“…A fungal isolate with capability to grow in keratinous substrate as only source of carbon and nitrogen was identified as Aspergillus niger using the sequencing…”
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