Results 151 to 160 of about 910,991 (300)

Protocol for mitochondrial isolation and sub-cellular localization assay for mitochondrial proteins. [PDF]

STAR Protoc, 2023
Zhou D, Zhong S, Han X, Liu D, Fang H, Wang Y.   +5 more
europepmc   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Neurodegeneration-associated mitochondrial proteins, CHCHD2 and CHCHD10-what distinguishes the two? [PDF]

Front Cell Dev Biol, 2022
Ikeda A, Imai Y, Hattori N.
europepmc   +1 more source

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

Mitochondrial Proteins as Source of Cancer Neoantigens. [PDF]

Int J Mol Sci, 2022
Prota G, Lechuga-Vieco AV, De Libero G.
europepmc   +1 more source

Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth, Mert Sisman, Jinwei Zhang, Hyeong‐geol Shin, Xu Li, Bela Turk, Ali Fatemi, Thanh Nguyen, Eric Mallack   +8 more
wiley   +1 more source

Cytosolic and mitochondrial translation elongation are coordinated through the molecular chaperone TRAP1 for the synthesis and import of mitochondrial proteins. [PDF]

Genome Res, 2023
Avolio R, Agliarulo I, Criscuolo D, Sarnataro D, Auriemma M, De Lella S, Pennacchio S, Calice G, Ng MY, Giorgi C, Pinton P, Cooperman BS, Landriscina M, Esposito F, Matassa DS.   +14 more
europepmc   +1 more source

In fission yeast, 65 non-essential mitochondrial proteins related to respiration and stress become essential in low-glucose conditions. [PDF]

R Soc Open Sci, 2023
Mori A, Uehara L, Toyoda Y, Masuda F, Soejima S, Saitoh S, Yanagida M.   +6 more
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

Long-lived mitochondrial proteins and why they exist. [PDF]

Trends Cell Biol, 2022
Bomba-Warczak E, Savas JN.
europepmc   +1 more source