Results 241 to 250 of about 721,346 (281)

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Probing enzyme-dependent pseudouridylation using direct RNA sequencing to assess epitranscriptome plasticity in a neuronal cell line. [PDF]

Cell Syst
Fanari O, Tavakoli S, Qiu Y, Makhamreh A, Nian K, Akeson S, Meseonznik M, McCormick CA, Bloch D, Gamper H, Jain M, Hou YM, Wanunu M, Rouhanifard SH.   +13 more
europepmc   +1 more source

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

Annals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao, Qiu‐Ping Zhao, Run‐Yun Li, Wei Chen, Huan‐Huan Song, Wan‐Jin Chen, Ying Fu   +6 more
wiley   +1 more source

An optimized protocol for quality control of gene therapy vectors using nanopore direct RNA sequencing. [PDF]

Genome Res
Zeglinski K, Montellese C, Ritchie ME, Alhamdoosh M, Vonarburg C, Bowden R, Jordi M, Gouil Q, Aeschimann F, Hsu A.   +9 more
europepmc   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Mitochondrial transcriptome of Candida albicans in flagranti - direct RNA sequencing reveals a new layer of information. [PDF]

BMC Genomics
Piątkowski J, Koźluk K, Golik P.
europepmc   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Analysis of bacterial transcriptome and epitranscriptome using nanopore direct RNA sequencing. [PDF]

Nucleic Acids Res
Tan L, Guo Z, Shao Y, Ye L, Wang M, Deng X, Chen S, Li R.   +7 more
europepmc   +1 more source

Unveiling Tissue-Specific RNA Landscapes in Mouse Organs During Fasting and Feeding Using Nanopore Direct RNA Sequencing. [PDF]

Adv Sci (Weinh)
Jiang C, Li P, Cao H.
europepmc   +1 more source

Novel insights into the Leishmania infantum transcriptome diversity of protein-coding and non-coding sequences in both stages of parasite development using nanopore direct RNA sequencing. [PDF]

BMC Genomics
Emond-Rheault JG, Ferreira GR, Lavoie-Ouellet C, Smith MA, Papadopoulou B.   +4 more
europepmc   +1 more source