Results 171 to 180 of about 902,534 (304)

Synthesis and assembly of mitochondrial proteins [PDF]

, 1988
Das, Rathindra C., Neupert, Walter, Nicholson, Donald W., Robbins, P. W.   +3 more
core   +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

Mitochondrial proteins contribute to the pathogenesis of myasthenia gravis. [PDF]

Sci Rep
Cao F, Zhang H, Xu B, Wang J, Wu B, Zhou Y, Yu J, Li C.   +7 more
europepmc   +1 more source

Membrane Lipid Reshaping Underlies Oxidative Stress Sensing by the Mitochondrial Proteins UCP1 and ANT1. [PDF]

Antioxidants (Basel), 2022
Jovanović O, Chekashkina K, Škulj S, Žuna K, Vazdar M, Bashkirov PV, Pohl EE.   +6 more
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

VAMP7-dependent late endosomal secretion of ER and mitochondrial proteins impacts the tumor microenvironment and macrophage engagement. [PDF]

Nat Commun
Vats S, Dionisio P, Lemercier Q, Pineau R, Therreau L, Lipecka J, Cholley B, Moog JB, Wojnacki J, Keime C, Zala D, Bun P, Freire S, Domingues N, Danglot L, Guerrera IC, Delevoye C, Chevet E, Raimundo N, Galli T.   +19 more
europepmc   +1 more source

SARS-CoV-2 and Mitochondrial Proteins in Neural-Derived Exosomes of COVID-19. [PDF]

Ann Neurol, 2022
Peluso MJ, Deeks SG, Mustapic M, Kapogiannis D, Henrich TJ, Lu S, Goldberg SA, Hoh R, Chen JY, Martinez EO, Kelly JD, Martin JN, Goetzl EJ.   +12 more
europepmc   +1 more source

Intra-mitochondrial sorting of precursor proteins [PDF]

, 1993
Brown, Alistair J. P., Koll, Hans, Neupert, Walter, Stuart, Rosemary A.   +3 more
core   +1 more source

Stress proteins and mitochondrial protein import [PDF]

Antonie van Leeuwenhoek, 1990
Pfanner, Nikolaus, Ostermann, Joachim, Rassow, Joachim, Hartl, Franz-Ulrich, Neupert, Walter   +4 more
openaire   +4 more sources

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