Bianca Seminotti
Overview
Explore the profile of Bianca Seminotti including associated specialties, affiliations and a list of published articles.
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65
Citations
585
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Recent Articles
1.
Parmeggiani B, Signori M, Cecatto C, Frusciante M, Marcuzzo M, Souza D, et al.
Biochimie
. 2023 Aug;
219:21-32.
PMID: 37541567
Non ketotic hyperglycinemia (NKH) is an inborn error of glycine metabolism caused by mutations in the genes encoding glycine cleavage system proteins. Classic NKH has a neonatal onset, and patients...
2.
Glanzel N, Parmeggiani B, Grings M, Seminotti B, Brondani M, Bobermin L, et al.
Cells
. 2023 Jun;
12(12).
PMID: 37371027
Sulfite predominantly accumulates in the brain of patients with isolated sulfite oxidase (ISOD) and molybdenum cofactor (MoCD) deficiencies. Patients present with severe neurological symptoms and basal ganglia alterations, the pathophysiology...
3.
Brondani M, Roginski A, Ribeiro R, de Medeiros M, Hoffmann C, Wajner M, et al.
Toxicol Lett
. 2023 Apr;
381:48-59.
PMID: 37116597
Redox homeostasis, mitochondrial functions, and mitochondria-endoplasmic reticulum (ER) communication were evaluated in the striatum of rats after 3-nitropropionic acid (3-NP) administration, a recognized chemical model of Huntington's disease (HD). 3-NP...
4.
Seminotti B, Grings M, Glanzel N, Vockley J, Leipnitz G
Biochem Pharmacol
. 2023 Jan;
209:115433.
PMID: 36709926
Inherited metabolic disorders (IMDs) are genetic disorders that cause a disruption of a specific metabolic pathway leading to biochemical, clinical and pathophysiological sequelae. While the metabolite abnormalities in body fluids...
5.
Wolfe R, Heiman P, DAnnibale O, Karunanidhi A, Powers A, Mcguire M, et al.
Mol Genet Metab Rep
. 2022 Nov;
33:100932.
PMID: 36338154
Autoimmune Disease, Multisystem, with Facial Dysmorphism (ADMFD) is an autosomal recessive disorder due to pathogenic variants in the gene. It is characterized by failure to thrive, dysmorphic facial features, developmental...
6.
Seminotti B, Brondani M, Ribeiro R, Leipnitz G, Wajner M
Mol Neurobiol
. 2022 May;
59(8):4839-4853.
PMID: 35639256
Patients with glutaric aciduria type 1 (GA1), a neurometabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase (GCDH) activity, commonly manifest acute encephalopathy associated with severe striatum degeneration and progressive cortical...
7.
Seminotti B, Grings M, Tucci P, Leipnitz G, Saso L
Front Cell Neurosci
. 2021 Dec;
15:785057.
PMID: 34955754
Inherited metabolic disorders (IMDs) are rare genetic conditions that affect multiple organs, predominantly the central nervous system. Since treatment for a large number of IMDs is limited, there is an...
8.
Caus L, Vendramin Pasquetti M, Seminotti B, Woontner M, Wajner M, Calcagnotto M
J Neurosci Res
. 2021 Oct;
100(4):992-1007.
PMID: 34713466
Glutaric acidemia type I (GA-I) is an inborn error of metabolism of lysine, hydroxylysine, and tryptophan, caused by glutaryl-CoA-dehydrogenase (GCDH) deficiency, characterized by the buildup of toxic organic acids predominantly...
9.
Seminotti B, Roginski A, Zanatta A, Amaral A, Fernandes T, Spannenberger K, et al.
J Bioenerg Biomembr
. 2021 Aug;
53(5):525-539.
PMID: 34347214
S-adenosylmethionine (AdoMet) predominantly accumulates in tissues and biological fluids of patients affected by liver dysmethylating diseases, particularly glycine N-methyltransferase, S-adenosylhomocysteine hydrolase and adenosine kinase deficiencies, as well as in some...
10.
Ribeiro R, Seminotti B, Zanatta A, de Oliveira F, Amaral A, Leipnitz G, et al.
Neuroscience
. 2021 Aug;
471:115-132.
PMID: 34333063
D-2-hydroxyglutaric acid (D-2-HG) accumulates and is the biochemical hallmark of D-2-hydroxyglutaric acidurias (D-2-HGA) types I and II, which comprehend two inherited neurometabolic diseases with severe cerebral abnormalities. Since the pathogenesis...