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Disease on EC 7.3.2.3 - ABC-type sulfate transporter

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Acidosis, Lactic
The expanding clinical spectrum of mitochondrial diseases.
Adenocarcinoma
Loss of the SWI/SNF-ATPase subunit members SMARCF1 (ARID1A), SMARCA2 (BRM), SMARCA4 (BRG1) and SMARCB1 (INI1) in oesophageal adenocarcinoma.
Adenoma
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea.
Ataxia
The expanding clinical spectrum of mitochondrial diseases.
Bradycardia
ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia.
Carcinogenesis
BRG1 attenuates colonic inflammation and tumorigenesis through autophagy-dependent oxidative stress sequestration.
BRG1 promotes the repair of DNA double-strand breaks by facilitating the replacement of RPA with RAD51.
Carcinoma
The ATPase subunit of ATP6V1C1 inhibits autophagy and enhances radiotherapy resistance in esophageal squamous cell carcinoma.
Cataract
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
Choriocarcinoma
Altered mitochondrial gene expression in human gestational trophoblastic diseases.
Colonic Neoplasms
Epigenetic silencing of the sulfate transporter gene DTDST induces sialyl Lewisx expression and accelerates proliferation of colon cancer cells.
Colorectal Neoplasms
PRMT1-mediated H4R3me2a recruits SMARCA4 to promote colorectal cancer progression by enhancing EGFR signaling.
Cysts
Multilocus sequence analysis of Echinococcus granulosus strains isolated from humans and animals in Iran.
Deafness
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
Dehydration
Drought-Enhanced Xylem Sap Sulfate Closes Stomata by Affecting ALMT12 and Guard Cell ABA Synthesis.
Re-examining the role of ABA as the primary long-distance signal produced by water-stressed roots.
Dementia
The expanding clinical spectrum of mitochondrial diseases.
Down Syndrome
Proteasome subunit proteins and neuropathology in tauopathies and synucleinopathies: Consequences for proteomic analyses.
Dystonia
Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes.
Esophageal Squamous Cell Carcinoma
The ATPase subunit of ATP6V1C1 inhibits autophagy and enhances radiotherapy resistance in esophageal squamous cell carcinoma.
Genetic Diseases, Inborn
Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea.
Mitochondrial G8292A and C8794T mutations in patients with Niemann-Pick disease type C.
Gestational Trophoblastic Disease
Altered mitochondrial gene expression in human gestational trophoblastic diseases.
Glioma
Brg1 mutation alters oxidative stress responses in glioblastoma.
Hemiplegia
Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes.
Hepatoblastoma
Mitochondrial genome-encoded ATPase subunit 6+8 mRNA increases in human hepatoblastoma cells in response to nonfatal cold stress.
Hereditary Complement Deficiency Diseases
Identification and functional characterization of the sulfate transporter gene GmSULTR1;2b in soybean.
Hydatidiform Mole
Altered mitochondrial gene expression in human gestational trophoblastic diseases.
Hyperoxaluria
Absence of the sulfate transporter SAT-1 has no impact on oxalate handling by mouse intestine and does not cause hyperoxaluria or hyperoxalemia.
Ichthyosis, Lamellar
Keratinocyte ATP binding cassette transporter expression is regulated by ultraviolet light.
Infections
Analysis and identification of tyrosine phosphorylated proteins in hemocytes of Litopenaeus vannamei infected with WSSV.
Infertility, Male
Development of KASP marker for cytoplasmic male sterility in Nicotiana tabacum and utilization in trait introgression.
Genetic and cytological analysis of a new spontaneous male sterility in radish (Raphanus sativus L.)
Subunit 6 of the Fo-ATP synthase complex from cytoplasmic male-sterile radish: RNA editing and NH2-terminal protein sequencing.
Intestinal Volvulus
The mitochondrial genome of Onchocerca volvulus: sequence, structure and phylogenetic analysis.
Invasive Pulmonary Aspergillosis
Exploration of Sulfur Assimilation of Aspergillus fumigatus Reveals Biosynthesis of Sulfur-Containing Amino Acids as a Virulence Determinant.
Leukemia
A rationale to target the SWI/SNF complex for cancer therapy.
Essential role of BRG, the ATPase subunit of BAF chromatin remodeling complexes, in leukemia maintenance.
Recombinant bovine interferon-? enhances in vitro development of bovine embryos by upregulating expression of connexin 43 and E-cadherin.
Role of SWI/SNF in acute leukemia maintenance and enhancer-mediated Myc regulation.
Lung Neoplasms
A rationale to target the SWI/SNF complex for cancer therapy.
BRG1 Loss Predisposes Lung Cancers to Replicative Stress and ATR Dependency.
Mitochondrial Diseases
Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase.
Movement Disorders
Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes.
Neoplasms
BRG1, the ATPase subunit of SWI/SNF chromatin remodeling complex, interacts with HDAC2 to modulate telomerase expression in human cancer cells.
BRM: the core ATPase subunit of SWI/SNF chromatin-remodelling complex-a tumour suppressor or tumour-promoting factor?
CHIP and BAP1 Act in Concert to Regulate INO80 Ubiquitination and Stability for DNA Replication.
Enhanced tumor growth in the NaS1 sulfate transporter null mouse.
Epigenetic silencing of the sulfate transporter gene DTDST induces sialyl Lewisx expression and accelerates proliferation of colon cancer cells.
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.
Inhibition of vacuolar ATPase subunit in tumor cells delays tumor growth by decreasing the essential macrophage population in the tumor microenvironment.
Lactate inhibits ATP6V0d2 expression in tumor-associated macrophages to promote HIF-2?-mediated tumor progression.
Lysosomotropic properties of weakly basic anticancer agents promote cancer cell selectivity in vitro.
Manipulation of the ubiquitin-proteasome pathway in cachexia: pentoxifylline suppresses the activation of 20S and 26S proteasomes in muscles from tumor-bearing rats.
Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression.
Role of SWI/SNF in acute leukemia maintenance and enhancer-mediated Myc regulation.
[Research Progress on the Role of Chromatin Remodeling Factor BRG1 in Acute Myeloid Leukemia].
Optic Atrophy, Hereditary, Leber
The expanding clinical spectrum of mitochondrial diseases.
Optic Nerve Diseases
The expanding clinical spectrum of mitochondrial diseases.
Osteochondrodysplasias
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype.
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.
Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype.
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
Diastrophic dysplasia: prenatal diagnosis and review of the literature.
Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans.
In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias.
Partial deletion of the sulfate transporter SLC13A1 is associated with an osteochondrodysplasia in the Miniature Poodle breed.
SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types.
The genetic basis of the osteochondrodysplasias.
Osteosarcoma
Identification of cellular proteins interacting with equine infectious anemia virus S2 protein.
Otosclerosis
Effect of 17 beta-estradiol on diastrophic dysplasia sulfate transporter activity in otosclerotic bone cell cultures and SaOS-2 cells.
Glucocorticoids inhibit diastrophic dysplasia sulfate transporter activity in otosclerosis by interleukin-6.
Increased activity of the diastrophic dysplasia sulfate transporter in otosclerosis and its inhibition by sodium fluoride.
Parkinsonian Disorders
Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes.
Pediatric Obesity
Mitochondrial ATPase subunit 6 and cytochrome B gene variations in obese Turkish children.
Retinitis Pigmentosa
The expanding clinical spectrum of mitochondrial diseases.
Retinoblastoma
The crystal structure of gankyrin, an oncoprotein found in complexes with cyclin-dependent kinase 4, a 19 S proteasomal ATPase regulator, and the tumor suppressors Rb and p53.
Rhabdoid Tumor
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.
Sarcoma
SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas.
Seizures
The expanding clinical spectrum of mitochondrial diseases.
Seminoma
Reduced semen quality in patients with testicular cancer seminoma is associated with alterations in the expression of sperm proteins.
Skin Neoplasms
BRM and BRG1 subunits of the SWI/SNF chromatin remodelling complex are downregulated upon progression of benign skin lesions into invasive tumours.
Spondylolysis
Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene.
Starvation
Downregulation of ubiquitin-dependent proteolysis by eicosapentaenoic acid in acute starvation.
Gene expression patterns of sulfur starvation in Synechocystis sp. PCC 6803.
Identification and functional characterization of a sulfate transporter induced by both sulfur starvation and mycorrhiza formation in Lotus japonicus.
Regulation of sulfur assimilation in higher plants: a sulfate transporter induced in sulfate-starved roots plays a central role in Arabidopsis thaliana.
Tuberculosis
Guanine nucleotides differentially modulate backbone dynamics of the STAS domain of the SulP/SLC26 transport protein Rv1739c of Mycobacterium tuberculosis.
Increased sulfate uptake by E. coli overexpressing the SLC26-related SulP protein Rv1739c from Mycobacterium tuberculosis.
Induced Folding Under Membrane Mimetic and Acidic Conditions Implies Undiscovered Biological Roles of Prokaryotic Ubiquitin-Like Protein Pup.
NMR assignment and secondary structure of the STAS domain of Rv1739c, a putative sulfate transporter of Mycobacterium tuberculosis.
Solution Structure of the Guanine Nucleotide-binding STAS Domain of SLC26-related SulP Protein Rv1739c from Mycobacterium tuberculosis.
Ventricular Fibrillation
ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia.
Vitamin B 6 Deficiency
Effects of Pyridoxine Deficiency on Hippocampal Function and Its Possible Association with V-Type Proton ATPase Subunit B2 and Heat Shock Cognate Protein 70.
Wilms Tumor
BRG1-SWI/SNF-dependent regulation of the Wt1 transcriptional landscape mediates epicardial activity during heart development and disease.