Article
Biochemistry & Molecular Biology
Jenna M. Lentini, Rachel Bargabos, Chen Chen, Dragony Fu
Summary: The study reveals that METTL8 is necessary for m3C formation in mt-tRNAs in humans and suggests a potential role for m3C modification in mitochondrial tRNA structure.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2022)
Article
Neuroimaging
Elizabeth R. Spencer, Dhinakaran Chinappen, Britt C. Emerton, Amy K. Morgan, Matti S. Hamalainen, Dara S. Manoach, Uri T. Eden, Mark A. Kramer, Catherine J. Chu
Summary: Rolandic epilepsy is a common form of epileptic encephalopathy characterized by sleep-potentiated inferior Rolandic epileptiform spikes, seizures, and cognitive deficits in school-age children that resolve by adolescence. Recent research suggests that there is a lack of sleep spindles, which are thalamocortical rhythms associated with sleep-dependent learning, in the Rolandic cortex during active epilepsy. This disruption in spindle activity extends beyond the epileptic cortex and may contribute to the broad cognitive deficits observed in this condition.
NEUROIMAGE-CLINICAL
(2022)
Article
Genetics & Heredity
Toshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, Matias Wagner, Urania Kotzaeridou, Ines Brosse, Markus Ries, Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato, Winnie P. Ong, Hui B. Chew, Kavitha Rethanavelu, Emmanuelle Ranza, Xavier Blanc, Yuri Uchiyama, Naomi Tsuchida, Atsushi Fujita, Yoshiteru Azuma, Eriko Koshimizu, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hidehisa Takahashi, Etsuko Miyagi, Yoshinori Tsurusaki, Hiroshi Doi, Masataka Taguri, Stylianos E. Antonarakis, Mitsuko Nakashima, Hirotomo Saitsu, Satoko Miyatake, Naomichi Matsumoto
Summary: In this study, heterozygous CELF2 variants were identified in five unrelated individuals, resulting in developmental and epileptic encephalopathy (DEE) in four individuals and intellectual disability with autistic features in one individual. The variants were mainly de novo, except for one inherited from a mosaic mother. These variants likely disrupt the nuclear localization of the CELF2 protein, leading to the associated DEE phenotype.
Article
Genetics & Heredity
Rachel Rabin, Yoel Hirsch, Martin M. Johansson, Joseph Ekstein, Ahron Ekstein, John Pappas
Summary: THG1L-associated autosomal recessive ataxia is a disorder caused by abnormal mitochondrial tRNA modification. Patients present with various symptoms, including developmental delays and cerebellar dysfunction.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Multidisciplinary Sciences
Leah R. Padgett, Jenna M. Lentini, Michael J. Holmes, Krista L. Stilger, Dragony Fu, William J. Sullivan
Review
Biochemistry & Molecular Biology
Jillian Ramos, Dragony Fu
BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS
(2019)
Article
Genetics & Heredity
Ranad Shaheen, Paul Mark, Christopher T. Prevost, Adila AlKindi, Ahmad Alhag, Fatima Estwani, Tarfa Al-Sheddi, Eman Alobeid, Mona M. Alenazi, Nour Ewida, Niema Ibrahim, Mais Hashem, Firdous Abdulwahab, Emily M. Bryant, Egidio Spinelli, John Millichap, Sarah S. Barnett, Hutton M. Kearney, Andrea Accogli, Marcello Scala, Valeria Capra, Vincenzo Nigro, Dragony Fu, Fowzan S. Alkuraya
Article
Biochemistry & Molecular Biology
Jillian Ramos, Lu Han, Yan Li, Felix Hagelskamp, Stefanie M. Kellner, Fowzan S. Alkuraya, Eric M. Phizicky, Dragony Fu
MOLECULAR AND CELLULAR BIOLOGY
(2019)
Article
Genetics & Heredity
Kejia Zhang, Jenna M. Lentini, Christopher T. Prevost, Mais O. Hashem, Fowzan S. Alkuraya, Dragony Fu
Article
Biochemistry & Molecular Biology
Felix Hagelskamp, Kayla Borland, Jillian Ramos, Alan G. Hendrick, Dragony Fu, Stefanie Kellner
NUCLEIC ACIDS RESEARCH
(2020)
Article
Biochemistry & Molecular Biology
Jillian Ramos, Melissa Proven, Jonatan Halvardson, Felix Hagelskamp, Ekaterina Kuchinskaya, Benjamin Phelan, Ryan Bell, Stefanie M. Kellner, Lars Feuk, Ann-Charlotte Thuresson, Dragony Fu
Article
Biology
Chaitanya A. Kulkarni, Sergiy M. Nadtochiy, Leslie Kennedy, Jimmy Zhang, Sophea Chhim, Hanan Alwaseem, Elizabeth Murphy, Dragony Fu, Paul S. Brookes
Article
Genetics & Heredity
Martin Broly, Bogdan Polevoda, Kamel M. Awayda, Ning Tong, Jenna Lentini, Thomas Besnard, Wallid Deb, Declan O'Rourke, Julia Baptista, Sian Ellard, Mohammed Almannai, Mais Hashem, Ferdous Abdulwahab, Hanan Shamseldin, Saeed Al-Tala, Fowzan S. Alkuraya, Alberta Leon, Rosa L. E. van Loon, Alessandra Ferlini, Mariabeatrice Sanchini, Stefania Bigoni, Andrea Ciorba, Hans van Bokhoven, Zafar Iqbal, Almundher Al-Maawali, Fathiya Al-Murshedi, Anuradha Ganesh, Watfa Al-Mamari, Sze Chern Lim, Lynn S. Pais, Natasha Brown, Saima Riazuddin, Stephane Bezieau, Dragony Fu, Bertrand Isidor, Benjamin Cogne, Mitchell R. O'Connell
Summary: Covalent tRNA modifications have diverse roles in tRNA stability, folding, translation rate and fidelity, and various cellular processes. Mutations in the THUMPDI gene, involved in tRNA N4-acetylcytidine modification, have been linked to intellectual disability. This study presents individuals with rare loss-of-function variants in THUMPDI, showing common features of developmental delay, intellectual deficiency, behavioral abnormalities, facial dysmorphism, and ophthalmological abnormalities. Functional analysis demonstrates that THUMPDI variants result in a loss of tRNA modification, leading to syndromic intellectual disability.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Jenna M. Lentini, Rachel Bargabos, Chen Chen, Dragony Fu
Summary: The study reveals that METTL8 is necessary for m3C formation in mt-tRNAs in humans and suggests a potential role for m3C modification in mitochondrial tRNA structure.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2022)