Detalles de la búsqueda
1.
Restoration of the ER stress response protein TDAG51 in hepatocytes mitigates NAFLD in mice.
J Biol Chem
; 300(2): 105655, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-38237682
2.
Analysis of differential neonatal lethality in cystathionine ß-synthase deficient mouse models using metabolic profiling.
FASEB J
; 35(6): e21629, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33949005
3.
Derangement of hepatic polyamine, folate, and methionine cycle metabolism in cystathionine beta-synthase-deficient homocystinuria in the presence and absence of treatment: Possible implications for pathogenesis.
Mol Genet Metab
; 132(2): 128-138, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33483253
4.
Taurine alleviates repression of betaine-homocysteine S-methyltransferase and significantly improves the efficacy of long-term betaine treatment in a mouse model of cystathionine ß-synthase-deficient homocystinuria.
FASEB J
; 33(5): 6339-6353, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30768359
5.
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
J Inherit Metab Dis
; 43(5): 1024-1036, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32160317
6.
Maternal Amino Acid Profiles to Distinguish Constitutionally Small versus Growth-Restricted Fetuses Defined by Doppler Ultrasound: A Pilot Study.
Am J Perinatol
; 37(11): 1084-1093, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32120425
7.
Taurine treatment prevents derangement of the hepatic γ-glutamyl cycle and methylglyoxal metabolism in a mouse model of classical homocystinuria: regulatory crosstalk between thiol and sulfinic acid metabolism.
FASEB J
; 32(3): 1265-1280, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29101223
8.
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine ß-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial.
J Inherit Metab Dis
; 42(3): 424-437, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30873612
9.
Cystathionine beta-synthase deficiency alters hepatic phospholipid and choline metabolism: Post-translational repression of phosphatidylethanolamine N-methyltransferase is a consequence rather than a cause of liver injury in homocystinuria.
Mol Genet Metab
; 120(4): 325-336, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28291718
10.
Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression.
Dev Biol
; 396(1): 94-106, 2014 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-25281006
11.
Altered hepatic sulfur metabolism in cystathionine ß-synthase-deficient homocystinuria: regulatory role of taurine on competing cysteine oxidation pathways.
FASEB J
; 28(9): 4044-54, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24891521
12.
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Brain
; 137(Pt 2): 366-79, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24334290
13.
Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia.
bioRxiv
; 2024 Mar 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38586005
14.
Integrated stress response modulates cellular redox state via induction of cystathionine γ-lyase: cross-talk between integrated stress response and thiol metabolism.
J Biol Chem
; 287(10): 7603-14, 2012 Mar 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-22215680
15.
Cystathionine protects against endoplasmic reticulum stress-induced lipid accumulation, tissue injury, and apoptotic cell death.
J Biol Chem
; 287(38): 31994-2005, 2012 Sep 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-22854956
16.
Characterization of mitochondrial and metabolic alterations induced by trisomy 21 during neural differentiation.
Free Radic Biol Med
; 196: 11-21, 2023 02 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-36638900
17.
Altered expression of apoA-I, apoA-IV and PON-1 activity in CBS deficient homocystinuria in the presence and absence of treatment: possible implications for cardiovascular outcomes.
Mol Genet Metab
; 107(1-2): 55-65, 2012 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-22633282
18.
Long-term betaine therapy in a murine model of cystathionine beta-synthase deficient homocystinuria: decreased efficacy over time reveals a significant threshold effect between elevated homocysteine and thrombotic risk.
Mol Genet Metab
; 105(3): 395-403, 2012 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-22192524
19.
Oxidative stress as a candidate mechanism for accelerated neuroectodermal differentiation due to trisomy 21.
Free Radic Biol Med
; 186: 32-42, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35537597
20.
Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria.
Mol Genet Metab
; 103(4): 330-7, 2011 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-21601502