Mitochondrial and peroxisomal alterations contribute to energy dysmetabolism in Riboflavin Transporter Deficiency

F Colasuonno, A Niceforo, C Marioli… - Oxidative medicine …, 2020 - Wiley Online Library
Riboflavin transporter deficiency (RTD) is a childhood‐onset neurodegenerative disorder
characterized by progressive pontobulbar palsy, sensory and motor neuron degeneration …

[HTML][HTML] Mitochondrial abnormalities in induced pluripotent stem cells-derived motor neurons from patients with riboflavin transporter deficiency

F Colasuonno, E Bertini, M Tartaglia, C Compagnucci… - Antioxidants, 2020 - mdpi.com
Riboflavin transporter deficiency (RTD) is a childhood-onset neurodegenerative disorder
characterized by sensorineural deafness and motor neuron degeneration. Since riboflavin …

[HTML][HTML] New insights into the neurodegeneration mechanisms underlying riboflavin transporter deficiency (RTD): involvement of energy dysmetabolism and …

F Colasuonno, C Marioli, M Tartaglia, E Bertini… - Biomedicines, 2022 - mdpi.com
Riboflavin transporter deficiency (RTD) is a rare genetic disorder characterized by motor,
sensory and cranial neuropathy. This childhood-onset neurodegenerative disease is caused …

[HTML][HTML] Caspase-dependent apoptosis in Riboflavin Transporter Deficiency iPSCs and derived motor neurons

C Marioli, M Muzzi, F Colasuonno, C Fiorucci… - Cell Death …, 2024 - nature.com
Abstract Riboflavin Transporter Deficiency (RTD) is a rare genetic, childhood-onset disease.
This pathology has a relevant neurological involvement, being characterized by motor …

[HTML][HTML] Antioxidant amelioration of riboflavin transporter deficiency in motoneurons derived from patient-specific induced pluripotent stem cells

C Marioli, V Magliocca, S Petrini, A Niceforo… - International Journal of …, 2020 - mdpi.com
Mitochondrial dysfunction is a key element in the pathogenesis of neurodegenerative
disorders, such as riboflavin transporter deficiency (RTD). This is a rare, childhood-onset …

Altered cytoskeletal arrangement in induced pluripotent stem cells and motor neurons from patients with riboflavin transporter deficiency

A Niceforo, C Marioli, F Colasuonno… - Disease Models & …, 2021 - journals.biologists.com
The cytoskeletal network plays a crucial role in the differentiation, morphogenesis, function
and homeostasis of the nervous tissue, so that alterations in any of its components may lead …

[HTML][HTML] Riboflavin responsive mitochondrial dysfunction in neurodegenerative diseases

T Udhayabanu, A Manole, M Rajeshwari… - Journal of clinical …, 2017 - mdpi.com
Mitochondria are the repository for various metabolites involved in diverse energy-
generating processes, like the TCA cycle, oxidative phosphorylation, and metabolism of …

Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts

N Cornelius, TJ Corydon, N Gregersen… - Human molecular …, 2014 - academic.oup.com
Mitochondrial dysfunction and oxidative stress are central to the molecular pathology of
many human diseases. Riboflavin responsive multiple acyl-CoA dehydrogenation deficiency …

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

A Manole, Z Jaunmuktane, I Hargreaves… - Brain, 2017 - academic.oup.com
Abstract Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor,
sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory …

Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency

NR Pillai, H Amin, C Gijavanekar, N Liu… - American Journal of …, 2020 - Wiley Online Library
Riboflavin transporter deficiency (RTD)(MIM# 614707) is a neurogenetic disorder with its
most common manifestations including sensorineural hearing loss, peripheral neuropathy …