Biochemical Diagnosis of Coenzyme Q(10) Deficiency

Por Yubero, Delia, Montero, Raquel, Artuch, Rafael, Land, John M., Heales, Simon J.R., Hargreaves, Iain P.
Publicado em 2014

Poor maternal nutrition and accelerated postnatal growth induces an accelerated aging phenotype and oxidative stress in skeletal muscle of male rats

Por Tarry-Adkins, Jane L., Fernandez-Twinn, Denise S., Chen, Jian Hua, Hargreaves, Iain P., Neergheen, Viruna, Aiken, Catherine E., Ozanne, Susan E.
Publicado no Dis Model Mech (2016)

Nutritional programming of coenzyme Q: potential for prevention and intervention?

Por Tarry-Adkins, Jane L., Fernandez-Twinn, Denise S., Chen, Jian-Hua, Hargreaves, Iain P., Martin-Gronert, Malgorzata S., McConnell, Josie M., Ozanne, Susan E.
Publicado no FASEB J (2014)

Coenzyme Q(10) Prevents Insulin Signaling Dysregulation and Inflammation Prior to Development of Insulin Resistance in Male Offspring of a Rat Model of Poor Maternal Nutrition and...

Por Tarry-Adkins, Jane L., Fernandez-Twinn, Denise S., Madsen, Ralitsa, Chen, Jian-Hua, Carpenter, Asha, Hargreaves, Iain P., McConnell, Josie M., Ozanne, Susan E.
Publicado no Endocrinology (2015)

Altered skeletal muscle insulin signaling and mitochondrial complex II-III linked activity in adult offspring of obese mice

Por Shelley, Piran, Martin-Gronert, Malgorzata S., Rowlerson, Anthea, Poston, Lucilla, Heales, S. J. R., Hargreaves, Iain P., McConnell, Josie M., Ozanne, Susan E., Fernandez-Twinn, Denise S.
Publicado em 2009

OP55 BIOCHEMICAL ANALYSIS COMBINED WITH 3D STRUCTURAL PROTEIN MODELLING IDENTIFIES THE ROLE OF SPECIFIC MITOCHONDRIAL MUTATIONS IN GBM

Por Keatley, Kathleen, Polyzoidis, Stavros, Ashkan, Keyoumars, Heales, Simon J., Fillmore, Helen L., Hargreaves, Iain P., McGeehan, John E., Lloyd, Rhiannon E., Pilkington, Geoffrey J.
Publicado no Neuro Oncol (2015)

Coenzyme Q(10) prevents hepatic fibrosis, inflammation, and oxidative stress in a male rat model of poor maternal nutrition and accelerated postnatal growth(1)

Por Tarry-Adkins, Jane L, Fernandez-Twinn, Denise S, Hargreaves, Iain P, Neergheen, Viruna, Aiken, Catherine E, Martin-Gronert, Malgorzata S, McConnell, Josie M, Ozanne, Susan E
Publicado no Am J Clin Nutr (2016)

Coenzyme Q(10) prevents accelerated cardiac aging in a rat model of poor maternal nutrition and accelerated postnatal growth()

Por Tarry-Adkins, Jane L., Blackmore, Heather L., Martin-Gronert, Malgorzata S., Fernandez-Twinn, Denise S., McConnell, Josie M., Hargreaves, Iain P., Giussani, Dino A., Ozanne, Susan E.
Publicado em 2013

Mitochondria and Quality Control Defects in a Mouse Model of Gaucher Disease—Links to Parkinson’s Disease

Por Osellame, Laura D., Rahim, Ahad A., Hargreaves, Iain P., Gegg, Matthew E., Richard-Londt, Angela, Brandner, Sebastian, Waddington, Simon N., Schapira, Anthony H.V., Duchen, Michael R.
Publicado em 2013

Dysregulation of glucose metabolism is an early event in sporadic Parkinson's disease()

Por Dunn, Laura, Allen, George FG., Mamais, Adamantios, Ling, Helen, Li, Abi, Duberley, Kate E., Hargreaves, Iain P., Pope, Simon, Holton, Janice L., Lees, Andrew, Heales, Simon J., Bandopadhyay, Rina
Publicado em 2014

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

Por Liu, Yo-Tsen, Hersheson, Joshua, Plagnol, Vincent, Fawcett, Katherine, Duberley, Kate E C, Preza, Elisavet, Hargreaves, Iain P, Chalasani, Annapurna, Laurá, Matilde, Wood, Nick W, Reilly, Mary M, Houlden, Henry
Publicado em 2014

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

Por Ferdinandusse, Sacha, Waterham, Hans R, Heales, Simon JR, Brown, Garry K, Hargreaves, Iain P, Taanman, Jan-Willem, Gunny, Roxana, Abulhoul, Lara, Wanders, Ronald JA, Clayton, Peter T, Leonard, James V, Rahman, Shamima
Publicado no Orphanet J Rare Dis (2013)

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q(10) Deficiency: A Potentially Treatable Form of Mitochondrial Disease

Por Duncan, Andrew J., Bitner-Glindzicz, Maria, Meunier, Brigitte, Costello, Harry, Hargreaves, Iain P., López, Luis C., Hirano, Michio, Quinzii, Catarina M., Sadowski, Michael I., Hardy, John, Singleton, Andrew, Clayton, Peter T., Rahman, Shamima
Publicado em 2009

Absence of Intracellular Ion Channels TPC1 and TPC2 Leads to Mature-Onset Obesity in Male Mice, Due to Impaired Lipid Availability for Thermogenesis in Brown Adipose Tissue

Por Lear, Pamela V., González-Touceda, David, Porteiro Couto, Begoña, Viaño, Patricia, Guymer, Vanessa, Remzova, Elena, Tunn, Ruth, Chalasani, Annapurna, García-Caballero, Tomás, Hargreaves, Iain P., Tynan, Patricia W., Christian, Helen C., Nogueiras, Rubén, Parrington, John, Diéguez, Carlos
Publicado no Endocrinology (2015)

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

Por Alston, Charlotte L., Ceccatelli Berti, Camilla, Blakely, Emma L., Oláhová, Monika, He, Langping, McMahon, Colin J., Olpin, Simon E., Hargreaves, Iain P., Nolli, Cecilia, McFarland, Robert, Goffrini, Paola, O’Sullivan, Maureen J., Taylor, Robert W.
Publicado no Hum Genet (2015)

ANO10 mutations cause ataxia and coenzyme Q(10) deficiency

Por Balreira, Andrea, Boczonadi, Veronika, Barca, Emanuele, Pyle, Angela, Bansagi, Boglarka, Appleton, Marie, Graham, Claire, Hargreaves, Iain P., Rasic, Vedrana Milic, Lochmüller, Hanns, Griffin, Helen, Taylor, Robert W., Naini, Ali, Chinnery, Patrick F., Hirano, Michio, Quinzii, Catarina M., Horvath, Rita
Publicado no J Neurol (2014)

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to...

Por Lax, Nichola Z., Alston, Charlotte L., Schon, Katherine, Park, Soo-Mi, Krishnakumar, Deepa, He, Langping, Falkous, Gavin, Ogilvy-Stuart, Amanda, Lees, Christoph, King, Rosalind H., Hargreaves, Iain P., Brown, Garry K., McFarland, Robert, Dean, Andrew F., Taylor, Robert W.
Publicado no J Neuropathol Exp Neurol (2015)

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

Por Alston, Charlotte L, Howard, Caoimhe, Oláhová, Monika, Hardy, Steven A, He, Langping, Murray, Philip G, O'Sullivan, Siobhan, Doherty, Gary, Shield, Julian P H, Hargreaves, Iain P, Monavari, Ardeshir A, Knerr, Ina, McCarthy, Peter, Morris, Andrew A M, Thorburn, David R, Prokisch, Holger, Clayton, Peter E, McFarland, Robert, Hughes, Joanne, Crushell, Ellen, Taylor, Robert W
Publicado no J Med Genet (2016)