Research By Disease – CheckOrphan

Disease: Respiratory chain deficiency malfrmatins

A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases
A novel homozygous missense TTC12 variant identified in an infertile Pakistani man with severe oligoasthenoteratozoospermia and primary ciliary dyskinesia
A rare AAT variant presenting in a COPD patient: Q0 amersfoort mutation
A zebrafish tufm mutant model for the COXPD4 syndrome of aberrant mitochondrial function
Ablation of Sam50 is associated with fragmentation and alterations in metabolism in murine and human myotubes
Acute Metabolic Stress Induces Lymphatic Dysfunction through KATP Channel Activation
Aging AdipoR2-deficient mice are hyperactive with enlarged brains excessively rich in saturated fatty acids
Alternative localization of HEME OXYGENASE 1 in plant cells regulates cytosolic heme catabolism
Alternative oxidase blunts pseudohypoxia and photoreceptor degeneration due to RPE mitochondrial dysfunction
Asymmetrified Benzothiadiazole-Based Solid Additives Enable All-Polymer Solar Cells with Efficiency Over 19
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
Bioavailability enhancement of coenzyme Q10: An update of novel approaches
CCDC50 mediates the clearance of protein aggregates to prevent cellular proteotoxicity
Changes in respiratory infection trends during the COVID-19 pandemic in patients with haematologic malignancy
Chloroplastic ascorbate modifies plant metabolism and may act as a metabolite signal regardless of oxidative stress
Circulating B Cell-Derived Small RNA Delivered by Extracellular Vesicles: A Dialogue Mechanism for Long-Range Targeted Renal Mitochondrial Injury in Obesity
CISD3/MiNT is required for complex I function, mitochondrial integrity, and skeletal muscle maintenance
Complex mitochondrial disease caused by the mutation of COX10 in a toddler: a case-report study
Comprehensive Review on the Impact of Chemical Composition, Plasma Treatment, and Vacuum Ultraviolet (VUV) Irradiation on the Electrical Properties of Organosilicate Films
Connexin 43 modulates reverse electron transfer in cardiac mitochondria from inducible knock-out Cx43(Cre-ER(T)/fl) mice by altering the coenzyme Q pool
Constructing Heavy-Atom-Free Photosensitizers for Hypoxic Tumor Phototherapy Based on Donor-Excited Photoinduced Electron-Transfer-Driven Type-I and Type-II Mechanisms
Crystallographic Pathways to Tailoring Metal-Insulator Transition through Oxygen Transport in VO(2)
Cyclin-dependent kinase 12 deficiency reprogrammes cellular metabolism to alleviate ferroptosis potential and promote the progression of castration-resistant prostate cancer
Cytochrome c Oxidase Influences Pyraclostrobin Sensitivity in Fusarium graminearum by Regulating FgAox Through Transcription Factors FgAod2 and FgAod5
Cytochrome c oxidase IV isoform 1 (COX4-1) regulates the proliferation, migration and invasion of trophoblast cells via modulating mitochondrial function
Deciphering the Impact of ZnO Nanoparticles and a Sunscreen Product Containing ZnO on Phosphorus Dynamics and Release in Chlorella pyrenoidosa in Aquatic Systems
Defective mitochondrial COX1 translation due to loss of COX14 function triggers ROS-induced inflammation in mouse liver
Dendritic Morphology of Developing Hippocampal Neurons in Cyp11a1 Null Mice
Determining the functional role of the Gluconobacter oxydans GOX1969 protein as a BamB homolog
Development of a novel bacterial production system for recombinant bioactive proteins completely free from endotoxin contamination
Dissecting structure and function of the monovalent cation/H+ antiporters Mdm38 and Ylh47 in Saccharomyces cerevisiae
Dysregulation of mitochondria, apoptosis and mitophagy in Leber's hereditary optic neuropathy with MT-ND1 3635G>A mutation
Exchange Transfusion: A Good Option for the Acute Treatment of Familial Chylomicronemia Syndrome in the Neonatal Period
Exogenous silicon induces aluminum tolerance in white clover (Trifolium repens) by reducing aluminum uptake and enhancing organic acid secretion
Expanding the genetic and phenotypic spectrum of Baker-Gordon syndrome: a new de novo SYT1 variant
Formyl peptide receptor 2 regulates dendritic cell metabolism and Th17 cell differentiation during neuroinflammation
Hif1α-dependent mitochondrial acute O2 sensing and signaling to myocyte Ca2+ channels mediate arterial hypoxic vasodilation
Homozygosity for a Rare FASTKD2 Variant Resulting in an Adult Onset Autosomal Recessive Mitochondrial Podocytopathy
Hyperkinesias in Leigh-like Syndrome with Complex-I Deficiency Due to m.10191T>C in MT-ND3
Hypoxia-Inducible Factor 1-Alpha (HIF-1α): An Essential Regulator in Cellular Metabolic Control
IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency
Identification of proteins involved in intracellular ubiquinone trafficking in Saccharomyces cerevisiae using artificial ubiquinone probe
Impaired intestinal free fatty acid transport followed by chylomicron malformation, not pancreatic insufficiency, cause metabolic defects in cystic fibrosis
Inborn errors of the malate aspartate shuttle - Update on patients and cellular models
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease
Inhibition of angiogenesis by the secretome from iPSC-derived retinal ganglion cells with Leber's hereditary optic neuropathy-like phenotypes
Interferon-gamma contributes to disease progression in the Ndufs4(-/-) model of Leigh syndrome
Intermittent hypoxia exacerbates metabolic dysfunction-associated fatty liver disease by aggravating hepatic copper deficiency-induced ferroptosis
Iron supplementation and iron accumulation promote adipocyte thermogenesis through PGC1α-ATGL-mediated lipolysis
Kinin B1 receptor deficiency promotes enhanced adipose tissue thermogenic response to beta3-adrenergic stimulation
Lack of physiological evidence for cytochrome filaments functioning as conduits for extracellular electron transfer
Light green leaf sectors of variegated Dracaena fragrans plants show similar rates of oxygenic photosynthesis tо that of normal, dark green leaf sectors
LncRNAs are involved in regulating ageing and age-related disease through the adenosine monophosphate-activated protein kinase signalling pathway
Longitudinal Analysis of Mitochondrial Function in a Choline-Deficient L-Amino Acid-Defined High-Fat Diet-Induced Metabolic Dysfunction-Associated Steatohepatitis Mouse Model
Manganese deficiency alters photosynthetic electron transport in Marchantia polymorpha
Metabolic Profiling of Cochlear Organoids Identifies α-Ketoglutarate and NAD+ as Limiting Factors for Hair Cell Reprogramming
Mg2+ limitation leads to a decrease in chlorophyll, resulting in an unbalanced photosynthetic apparatus in the cyanobacterium Synechocytis sp. PCC6803
Mitochondrial complex I deficiency stratifies idiopathic Parkinson's disease
Mitochondrial perturbations in low-protein-diet-fed mice are associated with altered neutrophil development and effector functions
Mitochondrial respiration in microglia is essential for response to demyelinating injury but not proliferation
Mitochondrial respiration is essential for photosynthesis-dependent ATP supply of the plant cytosol
Molecular "backbone surgery" of electron-deficient heteroarenes based on dithienopyrrolobenzothiadiazole: conformation-dependent crystal structures and charge transport properties
Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia
Natriuretic peptide receptor-C perturbs mitochondrial respiration in white adipose tissue
Niacin supplementation in a child with novel MTTN variant m.5670A>G causing early onset mitochondrial myopathy and NAD(+) deficiency
Nitrate promotes the growth and the production of short-chain fatty acids and tryptophan from commensal anaerobe Veillonella dispar in the lactate-deficient environment by facilitating the catabolism of glutamate and aspartate
Normal transferrin glycosylation does not rule out severe ALG1 deficiency
Optic Neuritis in Resolving Phase of COVID-19 Infection and Its Management: A Case Report
Oxidative Metabolism as a Cause of Lipid Peroxidation in the Execution of Ferroptosis
Pathogenetic basis of optic nerve atrophy in methanol poisoning
Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2
Rare Biallelic Variants Affecting the Interdomain B Region of Zeta-Chain Associated Protein Kinase 70 (ZAP70) Protein in a Sudanese Patient: Case Report
Real-time PCR detection of PI*S and PI*Z alleles of SERPINA1 gene using SYBR green
Recent Progress of Fluorinated Conjugated Polymers
Retinal cells derived from patients with DRAM2-dependent CORD21 dystrophy exhibit key lysosomal enzyme deficiency and lysosomal content accumulation
Rhodoquinone-dependent electron transport chain is essential for C. elegans survival in hydrogen sulfide environments
RICTOR/mTORC2 downregulation in BRAFV600E melanoma cells promotes resistance to BRAF/MEK inhibition
Role of tcaA, a potential target as a ceftobiprole resistance breaker in MRSA β-lactam resistance
Role of tcaA, a potential target as a ceftobiprole resistance breaker, in MRSA β-lactam resistance
S100A8/A9(hi) neutrophils induce mitochondrial dysfunction and PANoptosis in endothelial cells via mitochondrial complex I deficiency during sepsis
SLC25A19 is required for NADH homeostasis and mitochondrial respiration
SLC7A11-mediated cystine import protects against NDUFS7 deficiency-induced cell death in HEK293T cells
Spontaneous Transition between Multiple Conductance States and Rectifying Behaviors in an Artificial Single-Molecule Funnel
Structural basis for the transport and regulation mechanism of the Multidrug resistance-associated protein 2
Succinate dehydrogenase A deficient renal cell carcinoma: A rare renal tumor distinct from typical Succinate dehydrogenase deficient renal cell carcinoma
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease
Tetraazaisoindigos:Serpentine Syntheses and Their Expected and Unexpected Photophysical and Electronic Properties
The Blood-Brain Barrier Is Unaffected in the Ndufs4-/- Mouse Model of Leigh Syndrome
The Effect of Neuronal CoQ(10) Deficiency and Mitochondrial Dysfunction on a Rotenone-Induced Neuronal Cell Model of Parkinson's Disease
The possible association of mitochondrial fusion and fission in copper deficiency-induced oxidative damage and mitochondrial dysfunction of the heart
The role and mechanism of VDAC1 in type 2 diabetes: An underestimated target of environmental pollutants
The synergistic effect of Cl doping and Bi coupling to promote the carrier separation of BiOBr for efficient photocatalytic nitrogen reduction
The yellow-cotyledon gene ( ATYCO) is a crucial factor for thylakoid formation and photosynthesis regulation in Arabidopsis
The yellow-cotyledon gene (ATYCO) is a crucial factor for thylakoid formation and photosynthesis regulation in Arabidopsis
Understanding coenzyme Q
Unraveling ETC complex I function in ferroptosis reveals a potential ferroptosis-inducing therapeutic strategy for LKB1-deficient cancers
Up-regulation of cholesterol synthesis by lysosomal defects requires a functional mitochondrial respiratory chain
Update on heme biosynthesis, tissue-specific regulation, heme transport, relation to iron metabolism and cellular energy
Upregulation of cholesterol synthesis by lysosomal defects requires a functional mitochondrial respiratory chain
Water-Stable, Eight-electron Acceptor Drives AnionWater Assisted Tunable Ionic Self-Assembly and Proton Conduction