Results 41 to 50 of about 620,035 (172)

Cellular Supplements as a Potential Therapeutic for Riboflavin Transporter Deficiency

, 2023
Riboflavin Transporter Deficiency (RTD) is a neurodegenerative disorder that primarily impacts motor neurons. This neurodegenerative disease leads to loss of muscle function, which extends to loss of vision, hearing, eating, moving and ultimately ...
Pryor, Lauren, Sterling, Felicity
core   +1 more source

Mechanophotochemistry: Lighting up EDA Complexes in the Solid State

Angewandte Chemie, EarlyView.
Examples of mechanophotochemical EDA complex‐mediated radical reactions, including a Giese reaction, a C─S cross‐coupling reaction, a phosphorylation reaction, and a sulfonylation reaction are shown to rapidly proceed in air using visible light excitation.
Aniket Kumar Srivastawa, Eli Zysman‐Colman   +1 more
wiley   +2 more sources

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   +2 more sources

Effect of riboflavin deficiency on development of the cerebral cortex in Slc52a3 knockout mice [PDF]

, 2020
Riboflavin transporter 3 (RFVT3), encoded by the SLC52A3 gene, is important for riboflavin homeostasis in the small intestine, kidney, and placenta. Our previous study demonstrated that Slc52a3 knockout (Slc52a3−/−) mice exhibited neonatal lethality and ...
Yoshimatsu, Hiroki, Itohara, Kotaro, Jin, Congyun, Koyanagi, Madoka, Nakagawa, Takayuki, Yonezawa, Atsushi, Imai, Satoshi, Matsubara, Kazuo, Yamanishi, Kaori, Nakagawa, Shunsaku, Omura, Tomohiro, Nagai, Junya, 小柳, 円花, Hiroki Yoshimatsu, 大村, 友博, Atsushi Yonezawa, Madoka Koyanagi, Tomohiro Omura, 中川, 俊作, Kaori Yamanishi, 山西, 香里, 松原, 和夫, Kotaro Itohara, 吉松, 宏樹, Shunsaku Nakagawa, Takayuki Nakagawa, 今井, 哲司, 金, 叢芸, 永井, 純也, Kazuo Matsubara, 糸原, 光太郎, Satoshi Imai, Junya Nagai, Congyun Jin, 米澤, 淳, 中川, 貴之   +35 more
core   +1 more source

Ocular Biomarkers of Riboflavin Transporter Deficiency

, 2023
To describe the clinical presentation with a focus on ocular manifestations and response to riboflavin supplementation of 3 patients with riboflavin transporter deficiency (RTD) caused by mutations in SLC52A2 (SLC52A2-RTD)
Sabrina Bulas, MS; Emma C. Bedoukian, MS, LCGC; Erin C. O\u27Neil, MD; Ian D. Krantz, MD; Sabrina W. Yum, MD; Grant T. Liu, MD; Tomas S. Aleman, MD
core  

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

The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2

Journal of Child Neurology, 2019
Purpose: To identify symptoms and health care interactions with patients with riboflavin transporter deficiency (RTD) type 2 prior to diagnosis. Methods: Parents of children with riboflavin transporter deficiency type 2 (n = 10) were ...
Fatima Amir, Carrie Atzinger, Keith Massey, John Greinwald, Lisa L. Hunter, Elizabeth Ulm, Margaret Kettler   +6 more
openaire   +3 more sources

Disease‐Stage Synchronized Nanozyme Therapy for Polymicrobial Sepsis through Adaptive Catalytic and Immune Reprogramming

Advanced Science, EarlyView.
A disease‐stage synchronized nanozyme platform is developed to treat polymicrobial sepsis by adapting its functions to changing infection environments. The system eliminates multidrug‐resistant bacteria during early infection while reducing inflammation and restoring immune balance during recovery, providing an integrated strategy for infection control
Anlai Zou, Xiaoxue Zhu, Runhan Zhu, Chengchu Xue, Qinyu Zhang, Mengke Li, Ting Yu, Yuzhen Gao, Zhi Ruan, Ying Fu, Yunlei Xianyu, Jun Zhang   +11 more
wiley   +1 more source

Alteration of Riboflavin transporter expression in human cancer

, 2022
Riboflavin (Rf), or vitamin B2, is an essential dietary component and represents the precursor of flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), which are important enzymatic cofactors required for terminal mitochondrial metabolism ...
Maria Tolomeo, Maria Barile, Alessia Nisco, Tiago Carvalho, Daria Di Molfetta   +4 more
core  

SIRT7‐Mediated H2BK120 Succinylation Drives Aberrant Mitophagy in Sepsis‐Associated Cognitive Dysfunction

Advanced Science, EarlyView.
Sepsis triggers hippocampal SIRT7 loss, promoting histone H2B succinylation and activation of the PD‐1/PD‐L1–PINK1 axis. This metabolic‐epigenetic cascade drives aberrant mitophagy and neuronal injury, ultimately causing cognitive deficits. Targeting SIRT7‐dependent succinylation offers a potential strategy to protect brain function during sepsis ...
Na Meng, Jiateng Zhou, Xiaoyu Guo, Ting Hong, Xuelian Li, Xingyu Wei, Chanhua Zhang, Xixue Zhang, Songbin Liu, Yulin Zhang, Liangfang Yao, Lina Huang, Weidong Gu   +12 more
wiley   +1 more source