Keith Massey

Altered dimerization of certain riboflavin transporter 2 mutants: a possible source of UPR, altered calcium signalling and mitochondrial derangements in RTD2

Maria Tolomeo, Valentina Magliocca, Stefania Petrini, Alessia De Nisco et autres

Riboflavin transporter deficiency Type 2 (RTD2, OMIM #614707), formerly known as Brown-Vialetto-Van Laere Syndrome 2 (BVVLS 2), is a rare autosomal recessive neurodegenerative disorder caused by biallelic variants in the SLC52A2 gene, encoding for riboflavin transporter 2 (RFVT2). This transporter plays a …

it, fr (code pays fourni par la source)

Riboflavin transporter deficiency: AAV9-SLC52A2 gene therapy as a new therapeutic strategy

Valentina Magliocca, Xin Chen, Keith Massey, Anai Gonzalez‐Cordero et autres

Riboflavin transporter deficiency syndrome (RTD) is a rare childhood-onset neurodegenerative disorder caused by mutations in SLC52A2 and SLC52A3 genes, encoding the riboflavin (RF) transporters hRFVT2 and hRFVT3. In the present study we focused on RTD Type 2, which is due to variants …

it, us, au (code pays fourni par la source)

Riboflavin Transporter Deficiency or Brown-Vialetto-Van Laere Syndrome

Enrico Bertini, Claudia Compagnucci, Keith Massey

it (code pays fourni par la source)

Riboflavin supplementation in children with riboflavin transporter deficiency type 2 does not stop disease progression based on long‐term follow‐up

Enrico Bertini, Keith Massey

This commentary is on the original article by Fennessy et al. on pages 405–415 of this issue.

it (code pays fourni par la source)

Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes

Valentina Magliocca, Angela Lanciotti, Elena Ambrosini, Lorena Travaglini et autres

Introduction: Riboflavin transporter deficiency type 2 (RTD2) is a rare neurodegenerative autosomal recessive disease caused by mutations in the SLC52A2 gene encoding the riboflavin transporters, RFVT2. Riboflavin (Rf) is the precursor of FAD (flavin adenine dinucleotide) and FMN (flavin mononucleotide), which are …

it (code pays fourni par la source)

New Insight for Riboflavin Transporter Deficiency: Aav9-Slc52a2 Gene Therapy as a New Therapeutic Strategy

Valentina Magliocca, Xin Chen, Keith Massey, Anai Gonzalez‐Cordero et autres

Impact of natural mutations on the riboflavin transporter 2 and their relevance to human riboflavin transporter deficiency 2

Lara Console, Maria Tolomeo, Jessica Cosco, Keith Massey et autres

Abstract Riboflavin transporter deficiency 2 (RTD2) is a rare neurological disorder caused by mutations in the Solute carrier family 52 member 2 (Slc52a2) gene encoding human riboflavin transporter 2 (RFVT2). This transporter is ubiquitously expressed and mediates tissue distribution of riboflavin, a …

it, ca (code pays fourni par la source)

Optimizing the Allocation of Secure Fog Resources based on QoS Requirements

Keith Massey, Nadia Moazen, Talal Halabi

Fog computing plays a critical role in the provisioning of computing tasks in the context of Internet of Things (IoT) services. However, the security of IoT services against breaches and attacks relies heavily on the security of fog resources, which must be …

ca (code pays fourni par la source)

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

Alessia Niceforo, Chiara Marioli, Fiorella Colasuonno, Stefania Petrini et autres

ABSTRACT 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 to neurodegenerative diseases. Riboflavin transporter deficiency (RTD), a childhood-onset disorder characterized by degeneration …

it, ro, us (code pays fourni par la source)

Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells

Chiara Marioli, Valentina Magliocca, Stefania Petrini, Alessia Niceforo et autres

Mitochondrial dysfunction is a key element in the pathogenesis of neurodegenerative disorders, such as riboflavin transporter deficiency (RTD). This is a rare, childhood-onset disease characterized by motoneuron degeneration and caused by mutations in SLC52A2 and SLC52A3, encoding riboflavin (RF) transporters (RFVT2 and …

it, us (code pays fourni par la source)

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

Fiorella Colasuonno, Alessia Niceforo, Chiara Marioli, Anna Fracassi et autres

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 …

it, us (code pays fourni par la source)

Supplemental Material, Amir_Supplementary_AppendixA - The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2

Fatima Amir, Carrie Atzinger, Keith Massey, John H. Greinwald et autres

Supplemental Material, Amir_Supplementary_AppendixA for The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2 by Fatima Amir, Carrie Atzinger, Keith Massey, John Greinwald, Lisa L. Hunter, Elizabeth Ulm and Margaret Kettler in Journal of Child Neurology