Results 41 to 50 of about 467 (113)

Image_1_Identification and verification of prognostic cancer subtype based on multi-omics analysis for kidney renal papillary cell carcinoma.pdf

, 2023
BackgroundIdentifying Kidney Renal Papillary Cell Carcinoma (KIRP) patients with high-risk, guiding individualized diagnosis and treatment of patients, and identifying effective prognostic targets are urgent problems to be solved in current research on ...
Mei Li (217363), Rongshan Li (7542629), Baodong Wang (3359171)   +2 more
core   +1 more source

Molybdenum cofactor deficiency due to MOCS2 mutation

, 2012
Molybdenum cofactor deficiency causes severe neonatal metabolic disease, seizures and death or severe brain damage. The cofactor forms the active site in aldehyde oxidase, xanthine oxidoreductase, mitochondrial amidoxime reducing component and sulphite ...
Allgood, Catherine (x), Chin, Raymond (R17897), Edwards, Matthew (R16367), Whitehall, John (R15925), Santamaria, Jose A., Schwarz, Gunter, Roeper, Juliane, Wong, Flora   +7 more
core   +1 more source

rAAV-based gene therapy for molybdenum cofactor deficiency type B [PDF]

, 2015
Molybdenum cofactor (MoCo) deficiency type A is thus far only one curable type of MoCo deficiency. In the present study, a mouse model for MoCo deficiency type B (Mocs2-/-) was generated, characterised and used for preclinical trials.
Jakubiczka-Smorag, Joanna, Brück, Wolfgang, Georg-August-Universität Göttingen, Schu, Peter, Burfeind, Peter, Joanna Jakubiczka-Smorag, null null   +6 more
core   +1 more source

Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients

, 2016
Molybdenum cofactor (MoCo) deficiency is a rare, autosomal-recessive disorder, mainly caused by mutations in MOCS1 (MoCo deficiency type A) or MOCS2 (MoCo deficiency type B) genes; the absence of active MoCo results in a deficiency in all MoCo-dependent ...
Metz, Imke, Hakroush, Samy, Smorag, Lukasz, Schwarz, Guenter, Brueck, Wolfgang, Jakubiczka-Smorag, Joanna, Santamaria-Araujo, Jose Angel, Kumar, Avadh, Burfeind, Peter, Reiss, Jochen   +9 more
core   +1 more source

transcript isoforms

, 2018
Alternative transcript isoforms of MOCS2 and FST expressed in the regenerating mask ...
Pedro Andrade (806677), Matthew Toomey (3458540), Cristiana Marques (5725658), Afonso, Sandra, Pedro Miguel Araújo (5725661), Ricardo Lopes (562215), Miguel Carneiro (133770), Toomey, Matthew, Corbo, Joseph, Malgorzata Gazda (5725667), Andrade, Pedro, Sabatino, Stephen, Joseph Corbo (5725670), Lopes, Ricardo, Stephen Sabatino (5725664), Marques, Cristiana, Sandra Afonso (469330), Carneiro, Miguel, Araújo, Pedro Miguel, Gazda, Malgorzata   +19 more
core   +1 more source

Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Molybdenum cofactor deficiency (MoCD) Type A is an ultrarare disorder causing neurodegeneration and early death. Cyclic pyranopterin monophosphate (cPMP), a molybdenum cofactor precursor, is a therapeutic option for patients with MoCD Type A.
Guenter Schwarz, Donald G. Basel, Bernd C. Schwahn, Ronen Spiegel, Flora Y. Wong, Robin Bliss, Liza Squires   +6 more
wiley   +1 more source

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2

, 2010
International audienceAll molybdenum-containing enzymes other than the bacterial nitrogenase share an identical molybdenum cofactor (MoCo), which is synthesized via a conserved pathway in all organisms and therefore also is called "universal molybdenum ...
Jochen Reiss, Hahnewald, Rita, Rita Hahnewald, Reiss, Jochen   +3 more
core   +1 more source

Refractory Seizures and Encephalopathy in a Neonate: A Rare Case of Molybdenum Cofactor Deficiency Type B - A Case Report

Indian Pediatrics Case Reports
Background: Molybdenum cofactor deficiency (MoCD) is a rare autosomal recessive inborn error of metabolism causing deficiency in molybdenum-dependent enzymes, leading to accumulation of toxic metabolites such as sulfite, resulting in severe neurological ...
Pradeep Kumar Sanga, Kailas Randad, Qudsiya Ansari, Akash Sarkate   +3 more
doaj   +1 more source

Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies

Journal of Inherited Metabolic Disease, Volume 47, Issue 4, Page 598-623, July 2024.
Abstract Sulfite intoxication is the hallmark of four ultrarare disorders that are caused by impaired sulfite oxidase activity due to genetic defects in the synthesis of the molybdenum cofactor or of the apoenzyme sulfite oxidase. Delays on the diagnosis of these disorders are common and have been caused by their unspecific presentation of acute ...
Bernd C. Schwahn, Francjan van Spronsen, Albert Misko, Julija Pavaine, Victoria Holmes, Ronen Spiegel, Guenter Schwarz, Flora Wong, Alistair Horman, James Pitt, Jörn Oliver Sass, Charlotte Lubout   +11 more
wiley   +1 more source

A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase

, 2006
The small and large subunits of molybdopterin (MPT) synthase (MOCS2A and MOCS2B), are both encoded by the MOCS2 gene in overlapping and shifted open reading frames (ORFs), which is a highly unusual structure for eukaryotes.
Acquaviva-Bourdain, Cecile, Lenz, Ulrike, Leimkühler, Silke (Prof. Dr.), Leimkuehler, Silke, Hahnewald, Rita, Vilaseca, Antonia, Reiss, Jochen   +6 more
core   +1 more source