Results 41 to 50 of about 520 (140)

Pseudodominance in Friedreich Ataxia—Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation

Movement Disorders Clinical Practice, Volume 10, Issue 4, Page 670-676, April 2023., 2023
ABSTRACT Background Friedreich ataxia (FA) is the most common form of autosomal recessive (AR) ataxia. It is a rare disease, but carriers are frequent (1/100). Pseudodominance in FA has seldomly been reported; it may pose additional challenges for diagnosis. Cases A family with two consecutive generations affected by FA is described.
Maria João Malaquias, Jorge Oliveira, Manuela Santos, Ana Filipa Brandão, Ana Sardoeira, Jorge Sequeiros, José Barros, Joana Damásio   +7 more
wiley   +1 more source

Riboflavin depletion promotes longevity and metabolic hormesis in Caenorhabditis elegans

Aging Cell, Volume 21, Issue 11, November 2022., 2022
Riboflavin depletion via knockdown of the C. elegans riboflavin transporter rft‐1 promotes longevity and metabolic hormesis. Riboflavin depletion mimics features of dietary restriction, and lifespan extension occurs through the activation of AMPK, FOXO, and the mitochondrial unfolded protein response.
Armen Yerevanian, Luke M. Murphy, Sinclair Emans, Yifei Zhou, Fasih M. Ahsan, Daniel Baker, Sainan Li, Adebanjo Adedoja, Lucydalila Cedillo, Nicole L. Stuhr, Einstein Gnanatheepam, Khoi Dao, Mohit Jain, Sean P. Curran, Irene Georgakoudi, Alexander A. Soukas   +15 more
wiley   +1 more source

Mimicking human riboflavin responsive neuromuscular disorders by silencing flad‐1 gene in C. elegans: Alteration of vitamin transport and cholinergic transmission

IUBMB Life, Volume 74, Issue 7, Page 672-683, July 2022., 2022
Abstract Riboflavin (Rf), or vitamin B2, is the precursor of FMN and FAD, redox cofactors of several dehydrogenases involved in energy metabolism, redox balance and other cell regulatory processes. FAD synthase, coded by FLAD1 gene in humans, is the last enzyme in the pathway converting Rf into FAD.
Piero Leone, Maria Tolomeo, Elisabetta Piancone, Pier Giorgio Puzzovio, Carla De Giorgi, Cesare Indiveri, Elia Di Schiavi, Maria Barile   +7 more
wiley   +1 more source

Combined isobutyryl‐CoA and multiple acyl‐CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis

JIMD Reports, Volume 63, Issue 4, Page 276-291, July 2022., 2022
Abstract In this report, we describe the case of an 11‐year‐old boy, who came to our attention for myalgia and muscle weakness, associated with inappetence and vomiting. Hypertransaminasemia was also noted, with ultrasound evidence of hepatomegaly. Biochemical investigations revealed acylcarnitine and organic acid profiles resembling those seen in MADD,
Albina Tummolo, Piero Leone, Maria Tolomeo, Rita Solito, Matteo Mattiuzzo, Francesca Romana Lepri, Tania Lorè, Roberta Cardinali, Donatella De Giovanni, Simonetta Simonetti, Maria Barile   +10 more
wiley   +1 more source

Treatment efficacy of high‐dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency

Molecular Genetics &Genomic Medicine, Volume 9, Issue 4, April 2021., 2021
Abstract Background Creatine transporter deficiency is an inborn error of metabolism caused by a deficiency in the creatine transporter protein encoded by the SLC6A8 gene. Previous treatment with creatine supplementation, either alone or in combination with creatine precursors (arginine or glycine), has been attempted; the efficacy of therapy, however,
Kaili Shi, Huimin Zhao, Shuming Xu, Hong Han, Wenjuan Li   +4 more
wiley   +1 more source

Moving towards clinical trials for mitochondrial diseases

Journal of Inherited Metabolic Disease, Volume 44, Issue 1, Page 22-41, January 2021., 2021
Abstract Primary mitochondrial diseases represent some of the most common and severe inherited metabolic disorders, affecting ~1 in 4,300 live births. The clinical and molecular diversity typified by mitochondrial diseases has contributed to the lack of licensed disease‐modifying therapies available. Management for the majority of patients is primarily
Robert D.S. Pitceathly, Nandaki Keshavan, Joyeeta Rahman, Shamima Rahman   +3 more
wiley   +1 more source

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. [PDF]

, 2013
Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progressive ...
Land, John M., Lin, JP, Antony, J, Brandner, Sebastian, Broomfield, Alexander, Menezes, MP, Oppenheim, Marcus, Horvath, Rita, Pandraud, Amelie, Lin, Jean-Pierre, Scherer, Steven S., Abrams, Alexander J., Shah, Ayaz H, Sugano, K, Lim, MJ, Scoto, Mariacristina, Carpenter, Kevin, Megarbane, Andre, Gold, Wendy, Land, JM, Ng, Joanne, Phadke, Rahul, Matsubara, K, Mathew, Ann A., Lim, Ming J., Shah, AH, Lek, Monkol, Foley, AR, Matsubara, Kazuo, Hargreaves, Iain, Foley, A. Reghan, Züchner, S, Manzur, Adnan Y., Lim, Ming J, McCullagh, BG, Mathew, Ann A, Reilly, Mary M, McGarvey, Michael L, Olpin, S, Urtizberea, JA, Scoto, M, Webster, R, Lek, M, Olpin, Simon, Wang, Min X, Reilly, MM, Farrell, Michael O., Burns, J, Houlden, H, McCullagh, B. Gary, Forman, Eva, Burns, Joshua, Straub, Volker, Hargreaves, IP, Houlden, Henry, Gonzalez, Michael A., Megarbane, A, Jungbluth, Heinz, O'Byrne, JJ, Scherer, Steven S, Pandraud, A, Menezes, Manoj P., Hughes, Imelda, O’Byrne, James J, Gonzalez, Michael A, Gold, W, McCullagh, B Gary, Muntoni, Francesco, Züchner, Stephan, Scherer, SS, Baxter, PS, Shah, Ayaz H., Jungbluth, Heinz; id_orcid, Christodoulou, John, O'Byrne, James J, McGarvey, ML, O'Brien, Katherine, Clayton, P, Broomfield, A, Menezes, Manoj P, King, MD, Yonezawa, Atsushi, O'Byrne, James J., Baxter, Peter S, McGarvey, Michael L., Prasad, M, Ng, J, Straub, V, Land, John M, Muntoni, F, Abrams, AJ, Lin, J-P, O’Brien, Katherine, Al-Odaib, A, Rahman, S, Al-Odaib, Ahmad, Zuechner, Stephan, Clayton, Peter, Manzur, Adnan Y, Phadke, R, Reilly, Mary M., Jungbluth, H, Farrell, Michael O, Prasad, Manish, Ouvrier, Robert A, Farrell, MO, Antony, Jayne, Horvath, R, Foley, A Reghan, Forman, E, Manzur, AY, Brandner, S, Hargreaves, I, Gonzalez, MA, Christodoulou, J, Rahman, Shamima, King, Mary D, King, Mary D., Sugano, Kumiko, Hughes, I, Ouvrier, RA, Wang, Min X., Ouvrier, Robert A., Urtizberea, J. Andoni, Webster, Richard, Abrams, Alexander J, Urtizberea, J Andoni, Baxter, Peter S., O'Brien, K, Wang, MX, Mathew, AA, Oppenheim, M, Carpenter, K, Yonezawa, A, Zuechner, S   +134 more
core   +1 more source

Functional variation of SLC52A3 rs13042395 predicts survival of Chinese gastric cancer patients

Journal of Cellular and Molecular Medicine, Volume 24, Issue 21, Page 12550-12559, November 2020., 2020
Abstract The solute carrier family 52 member 3 (SLC52A3) gene encodes riboflavin transporter protein which is essential to maintain mitochondrial function in cells. In our research, we found that SLC52A3 rs13042395 C > T variation was significantly associated with poor survival in a 926 Chinese gastric cancer (GCa) patients cohort (CC/CT genotype ...
Xiaofei Qu, Lei Cheng, Liqin Zhao, Lixin Qiu, Weijian Guo   +4 more
wiley   +1 more source

A juvenile ALS‐like phenotype dramatically improved after high‐dose riboflavin treatment

Annals of Clinical and Translational Neurology, Volume 7, Issue 2, Page 250-253, February 2020., 2020
AbstractRiboflavin transporter deficiency (RTD) was recently characterized as a cause of genetic recessive childhood‐onset motor neuron disease (MND) with hearing loss, formerly described as Brown‐Vialetto‐Van‐Lear syndrome. We describe a 18‐year‐old woman with probable RTD mimicking juvenile Amyotrophic Lateral Sclerosis (ALS) who presented with an ...
Christophe Carreau, Timothée Lenglet, Isabelle Mosnier, Ghizlene Lahlou, Guillaume Fargeot, Nicolas Weiss, Sophie Demeret, François Salachas, Alice Veauville‐Merllié, Cécile Acquaviva, Yann Nadjar   +10 more
wiley   +1 more source

Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency

Oxidative Medicine and Cellular Longevity, Volume 2020, Issue 1, 2020., 2020
Riboflavin transporter deficiency (RTD) is a childhood‐onset neurodegenerative disorder characterized by progressive pontobulbar palsy, sensory and motor neuron degeneration, sensorineural hearing loss, and optic atrophy. As riboflavin (RF) is the precursor of FAD and FMN, we hypothesize that both mitochondrial and peroxisomal energy metabolism ...
Fiorella Colasuonno, Alessia Niceforo, Chiara Marioli, Anna Fracassi, Fabrizia Stregapede, Keith Massey, Marco Tartaglia, Enrico Bertini, Claudia Compagnucci, Sandra Moreno, Francesca Danesi   +10 more
wiley   +1 more source