Results 31 to 40 of about 17,684 (152)

Mitochondrial Abnormalities in iPSC-Derived Motor Neurons From Patients With Riboflavin Transporter Deficiency [PDF]

, 2020
Riboflavin transporter deficiency (RTD) is a childhood-onset neurodegenerative disorder characterized by sensorineural deafness and motor neuron degeneration.
Fiorella Colasuonno, E. Bertini, M. Tartaglia, C. Compagnucci, S. Moreno   +4 more
semanticscholar   +2 more sources

Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders

The Turkish Journal of Pediatrics, 2021
Background. Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare, treatable neurodegenerative disorder with a variable clinical presentation, caused by mutations in three different riboflavin transporter genes. Case.
Berna Şeker Yılmaz, Serdar Ceylaner, Neslihan Önenli Mungan   +2 more
doaj   +1 more source

Enhanced mitochondrial activity reshapes a gut microbiota profile that delays NASH progression

Hepatology, EarlyView., 2022
Improved mitochondrial activity, due to the lack of methylation‐controlled J protein (MCJ), creates a specific microbiota signature that when transferred through cecal microbiota transplantation delays NASH progression by restoring the gut‐liver axis and enhancing hepatic fatty acid oxidation.
María Juárez‐Fernández, Naroa Goikoetxea‐Usandizaga, David Porras, María Victoria García‐Mediavilla, Miren Bravo, Marina Serrano‐Maciá, Jorge Simón, Teresa C. Delgado, Sofía Lachiondo‐Ortega, Susana Martínez‐Flórez, Óscar Lorenzo, Mercedes Rincón, Marta Varela‐Rey, Leticia Abecia, Héctor Rodríguez, Juan Anguita, Esther Nistal, María Luz Martínez‐Chantar, Sonia Sánchez‐Campos   +18 more
wiley   +1 more source

Adaptive regulation of riboflavin transport in heart: effect of dietary riboflavin deficiency in cardiovascular pathogenesis [PDF]

Molecular and Cellular Biochemistry, 2017
Deficiency or defective transport of riboflavin (RF) is known to cause neurological disorders, cataract, cardiovascular anomalies, and various cancers by altering the biochemical pathways. Mechanisms and regulation of RF uptake process is well characterized in the cells of intestine, liver, kidney, and brain origin, while very little is known in the ...
Tamilarasan Udhayabanu, Sellamuthu Karthi, Ayyavu Mahesh, Perumal Varalakshmi, Andreea Manole, Henry Houlden, Balasubramaniem Ashokkumar   +6 more
openaire   +3 more sources

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

Annals of Clinical and Translational Neurology, 2020
Riboflavin 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.
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
doaj   +1 more source

Molecular Mechanisms Mediating the Adaptive Regulation of Intestinal Riboflavin Uptake Process. [PDF]

PLoS ONE, 2015
The intestinal absorption process of vitamin B2 (riboflavin, RF) is carrier-mediated, and all three known human RF transporters, i.e., hRFVT-1, -2, and -3 (products of the SLC52A1, 2 & 3 genes, respectively) are expressed in the gut.
Veedamali S Subramanian, Abhisek Ghosal, Rubina Kapadia, Svetlana M Nabokina, Hamid M Said   +4 more
doaj   +1 more source

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

JIMD Reports, 2022
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.
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
doaj   +1 more source

FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening

Molecular Genetics & Genomic Medicine, 2019
Background Multiple acyl‐CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria type II, is a mitochondrial fatty acid oxidation disorder caused by variants in ETFA, ETFB, and ETFDH.
Kai Muru, Karit Reinson, Kadi Künnapas, Hardo Lilleväli, Zahra Nochi, Signe Mosegaard, Sander Pajusalu, Rikke K. J. Olsen, Katrin Õunap   +8 more
doaj   +1 more source

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

Orphanet Journal of Rare Diseases, 2012
The Brown-Vialetto-Van Laere syndrome is a rare neurological disorder which may present at all ages with sensorineural deafness, bulbar palsy and respiratory compromise. Fazio-Londe syndrome is considered to be the same disease entity.
Bosch Annet M, Stroek Kevin, Abeling Nico G, Waterham Hans R, IJlst Lodewijk, Wanders Ronald JA   +5 more
doaj   +1 more source

A.05 An epidemiologic study of SLC52A2-related Riboflavin Transport Deficiency [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2017
Background: Riboflavin transporter deficiency (RTD), formerly known as Brown-Vialetto-van Laere syndrome, is an early-onset neurodegenerative disorder with distinctive phenotypes. RTD is caused by mutations in either the SLC52A2 or SLC52A3 genes that encode riboflavin transporters RFVT-2 and RFVT-3, respectively.
JK Mah, M Menezes, K Massey
openaire   +1 more source