Rejane Gus Kessler

Beneficial in vitro effect of N-acetylcysteine and coenzyme Q10 on DNA damage in neurodegenerative Niemann-Pick type C 1 disease: preliminary results

Tatiane Grazieli Hammerschmidt, Gilian Guerreiro, Bruna Donida, Marco Raabe et autres

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Prenatal diagnosis of Pompe disease

Alice Brinckmann Oliveira Netto, Ana Carolina Brusius‐Facchin, Sandra Leistner‐Segal, Rejane Gus Kessler et autres

Evidence of redox imbalance and mitochondrial dysfunction in Niemann-Pick type C 1 patients: the in vitro effect of combined therapy with antioxidants and β‐cyclodextrin nanoparticles

Tatiane Grazieli Hammerschmidt, Bruna Donida, Marco Raabe, Jéssica Lamberty Faverzani et autres

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Diagnóstico pré-natal

Maria Teresa Vieira Sanseverino, Rejane Gus Kessler, Maira Graeff Burin, Nina Stein et autres

OBJETIVO: O desenvolvimento de técnicas para diagnosticar as condições genéticas intra-útero foi um grande avanço na genética clínica, mudando a perspectiva reprodutiva de famílias de risco. No Hospital de Clínicas de Porto Alegre (HCPA), o programa de diagnóstico pré-natal (DPN) de anomalias …

Cytokine profile and cholesterol levels in patients with Niemann-Pick type C disease presenting neurological symptoms: in vivo effect of miglustat and in vitro effect of N-acetylcysteine and coenzyme Q10

Tatiane Grazieli Hammerschmidt, Bruna Donida, Jéssica Lamberty Faverzani, Alana Pimentel Moura et autres

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Prenatal diagnosis of mucopolysaccharidosis type VI by analysis of the amniotic fluid supernatant in the mass spectrometry era

Francyne Kubaski, Ana Cecília Menezes, Zackary M. Herbst, Danilo de Assis Pereira et autres

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Protective effect of n-acetyl-L-cysteine and rosuvastatin against oxidative stress in fibroblasts from asymptomatic patients with X-ALD: a preliminary study

Desirèe Padilha Marchetti, Graziela S. Ribas, Bruna Donida, Verônica Bidinotto Brito et autres

Introduction: Several studies in the literature have evaluated the role of oxidative stress and adjuvant therapies for X-linked adrenoleukodystrophy (X-ALD). Here, we investigated whether n-acetyl-L-cysteine (NAC) and rosuvastatin (RSV) could influence the generation of reactive species, redox status and nitrative stress in …

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Protective effect of N-acetyl-L-cysteine and rosuvastatin against oxidative stress in fibroblasts from asymptomatic patients with X-ALD : a preliminary study

Desirèe Padilha Marchetti, Graziela S. Ribas, Bruna Donida, Verônica Bidinotto Brito et autres

Introduction: Several studies in the literature have evaluated the role of oxidative stress and adjuvant therapies for X-linked adrenoleukodystrophy (X-ALD). Here, we investigated whether n-acetyl-L-cysteine (NAC) and rosuvastatin (RSV) could influence the generation of reactive species, redox status and nitrative stress in …

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Quantitation of glycosaminoglycans in amniotic fluid by liquid chromatography tandem mass spectrometry: A potential tool for the rapid prenatal identification of MPS in pregnancies at risk

Francyne Kubaski, Rejane Gus Kessler, Danilo de Assis Pereira, Andryele Z. Machado et autres

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Nanoparticles containing β‐cyclodextrin potentially useful for the treatment of Niemann‐Pick C

Bruna Donida, Marco Raabe, Bárbara Tauffner, Marcelo Alexandre de Farias et autres

β-Cyclodextrin (β-CD) is being considered a promising therapy for Niemann-Pick C (NPC) disease because of its ability to mobilise the entrapped cholesterol from lysosomes, however, a major limitation is its inability to cross the blood-brain barrier (BBB) and address the central nervous …

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Monoolein-based nanoparticles for drug delivery to the central nervous system: A platform for lysosomal storage disorder treatment

Bruna Donida, Bárbara Tauffner, Maira F. Immich, Marcelo Alexandre de Farias et autres

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Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann‐Pick type C patients

Tatiane Grazieli Hammerschmidt, Maria Luiza Saraiva Pereira, Márcia Polese Bonatto, Rejane Gus Kessler et autres

BACKGROUND: Niemann-Pick type C (NP-C), one of 50 inherited lysosomal storage disorders, is caused by NPC protein impairment that leads to unesterified cholesterol accumulation in late endosomal/lysosomal compartments. The clinical manifestations of NP-C include hepatosplenomegaly, neurological and psychiatric symptoms. Current diagnosis for …

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