Search details
1.
Maintenance of cellular vitamin B6 levels and mitochondrial oxidative function depend on pyridoxal 5'-phosphate homeostasis protein.
J Biol Chem
; 299(9): 105047, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37451483
2.
Phosphoproteomic Analysis of FLCN Inactivation Highlights Differential Kinase Pathways and Regulatory TFEB Phosphoserines.
Mol Cell Proteomics
; 21(9): 100263, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35863698
3.
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
J Am Soc Nephrol
; 32(11): 2885-2899, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34607910
4.
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.
Hum Mol Genet
; 28(1): 96-104, 2019 01 01.
Article
in English
| MEDLINE | ID: mdl-30239721
5.
Direct Infusion Mass Spectrometry to Rapidly Map Metabolic Flux of Substrates Labeled with Stable Isotopes.
Metabolites
; 14(5)2024 Apr 25.
Article
in English
| MEDLINE | ID: mdl-38786724
6.
Rheb and Rags come together at the lysosome to activate mTORC1.
Biochem Soc Trans
; 41(4): 951-5, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23863162
7.
Metabolic Alterations in NADSYN1-Deficient Cells.
Metabolites
; 13(12)2023 Dec 12.
Article
in English
| MEDLINE | ID: mdl-38132878
8.
The malate-aspartate shuttle is important for de novo serine biosynthesis.
Cell Rep
; 42(9): 113043, 2023 09 26.
Article
in English
| MEDLINE | ID: mdl-37647199
9.
The long-term effect of mTOR inhibition on lipid and glucose metabolism in tuberous sclerosis complex: data from the Dutch TSC registry.
Orphanet J Rare Dis
; 17(1): 252, 2022 07 08.
Article
in English
| MEDLINE | ID: mdl-35804402
10.
RAP-1 and the RAL-1/exocyst pathway coordinate hypodermal cell organization in Caenorhabditis elegans.
EMBO J
; 26(24): 5083-92, 2007 Dec 12.
Article
in English
| MEDLINE | ID: mdl-17989692
11.
Evolution of the TOR pathway.
J Mol Evol
; 73(3-4): 209-20, 2011 Oct.
Article
in English
| MEDLINE | ID: mdl-22057117
12.
Upregulation of the pathogenic transcription factor SPI1/PU.1 in tuberous sclerosis complex and focal cortical dysplasia by oxidative stress.
Brain Pathol
; 31(5): e12949, 2021 09.
Article
in English
| MEDLINE | ID: mdl-33786950
13.
Cell-cell junction formation: the role of Rap1 and Rap1 guanine nucleotide exchange factors.
Biochim Biophys Acta
; 1788(4): 790-6, 2009 Apr.
Article
in English
| MEDLINE | ID: mdl-19159611
14.
Retrotransposition and mutation events yield Rap1 GTPases with differential signalling capacity.
BMC Evol Biol
; 10: 55, 2010 Feb 19.
Article
in English
| MEDLINE | ID: mdl-20170508
15.
Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations.
Biochim Biophys Acta Mol Basis Dis
; 1866(3): 165607, 2020 03 01.
Article
in English
| MEDLINE | ID: mdl-31759955
16.
Rap1A-deficient T and B cells show impaired integrin-mediated cell adhesion.
Mol Cell Biol
; 26(2): 643-53, 2006 Jan.
Article
in English
| MEDLINE | ID: mdl-16382154
17.
Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.
JAMA Neurol
; 76(3): 342-350, 2019 03 01.
Article
in English
| MEDLINE | ID: mdl-30575854
18.
A Tuba/Cdc42/Par6A complex is required to ensure singularity in apical domain formation during enterocyte polarization.
PLoS One
; 13(11): e0207159, 2018.
Article
in English
| MEDLINE | ID: mdl-30408122
19.
Activation of FoxO transcription factors contributes to the antiproliferative effect of cAMP.
Oncogene
; 24(12): 2087-95, 2005 Mar 17.
Article
in English
| MEDLINE | ID: mdl-15688004
20.
Biochemistry of the Rap-specific guanine nucleotide exchange factors PDZ-GEF1 and -2.
Methods Enzymol
; 407: 174-86, 2006.
Article
in English
| MEDLINE | ID: mdl-16757323