Results 121 to 130 of about 1,648 (159)

A Mitochondrial Plasma Proteomic Signature Identifies Metastatic Chromophobe Renal Cell Carcinoma. [PDF]

Cancers (Basel)
Steiner C, Han T, Safi S, Bzeih W, Mansour H, Saad E, Williams JF, Hirsch MS, Giri VK, Ascione L, Elon Y, Dicker AP, Tang Y, Choueiri TK, Henske EP, Xu W.   +15 more
europepmc   +1 more source

Lysine lactylation analysis of proteins in the heart of the Kawasaki disease mouse model. [PDF]

Front Cell Dev Biol
Zhuo W, Zhang M, Tan J, Gao Y, Wang Y, Wang N, Ma J, Zhang J, Liu Z, Lv H, Liu Y.   +10 more
europepmc   +1 more source

The Vsr-like protein FASTKD4 regulates the stability and polyadenylation of the MT-ND3 mRNA. [PDF]

Nucleic Acids Res
Yang X, Stentenbach M, Hughes LA, Siira SJ, Lau K, Hothorn M, Martinou JC, Rackham O, Filipovska A.   +8 more
europepmc   +1 more source

Biallelic mutations in SUPV3L1 cause an inherited neurodevelopmental disorder with variable leukodystrophy due to aberrant mitochondrial double stranded RNA processing

Green L, Hamilton N, Elpidorou M, Maroofian R, Douglas AG, Õunap K, Rose AM, Harris EL, Elworthy S, Renshaw SA, Low EC, Dockrell DH, Tveten K, Wells G, Harris SA, Al-Maawali A, Al-Thihli K, Al-Zuhaibi S, Futaisi AA, Calame D, Chinn I, Fisher KS, Sa M, Warren D, Zamani M, Sadeghian S, Azizimalamiri R, Galehdari H, Shariati G, Seifi T, Zaki MS, Afzal E, Tarnopolsky MA, Brady L, Zuchner SL, Efthymiou S, Scardamaglia A, Houlden H, Wakeling E, Prabhakar P, Roca-Bayerri C, Rice GI, Prouteau C, Bris C, Tessarech M, Sandvig I, Sheridan EG, Johnson CA, Livingston JH, Crow YJ, Poulter JA.   +50 more
europepmc   +1 more source

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PNPT1 mutations may cause Aicardi-Goutières-Syndrome

Brain and Development, 2021
Aicardi-Goutières syndrome (AGS) is a clinically and genetically heterogenous autoinflammatory disorder caused by constitutive activation of the type I interferon axis. It has been associated with the genes TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, IFIH1.
Christoph Hünseler, Anne Koy, Nadja Lucas   +2 more
exaly   +3 more sources

PNPT1 Release from Mitochondria during Apoptosis Triggers Decay of Poly(A) RNAs [PDF]

Cell, 2018
Widespread mRNA decay, an unappreciated feature of apoptosis, enhances cell death and depends on mitochondrial outer membrane permeabilization (MOMP), TUTases, and DIS3L2. Which RNAs are decayed and the decay-initiating event are unknown. Here, we show extensive decay of mRNAs and poly(A) noncoding (nc)RNAs at the 3' end, triggered by the mitochondrial
Xing Liu, Karla F Meza-Sosa, Zhibin Zhang   +2 more
exaly   +3 more sources

Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome [PDF]

Human Molecular Genetics, 2017
Leigh syndrome is a severe infantile encephalopathy with an exceptionally variable genetic background. We studied the exome of a child manifesting with Leigh syndrome at one month of age and progressing to death by the age of 2.4 years, and identified novel compound heterozygous variants in PNPT1, encoding the polynucleotide phosphorylase (PNPase ...
Uwe Richter, Liliya L Euro, Max Pohjanpelto   +2 more
exaly   +3 more sources

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants [PDF]

Journal of Clinical Medicine, 2019
PNPT1 (PNPase—polynucleotide phosphorylase) is involved in multiple RNA processing functions in the mitochondria. Bi-allelic pathogenic PNPT1 variants cause heterogeneous clinical phenotypes affecting multiple organs without any established genotype–phenotype correlations. Defects in PNPase can cause variable combined respiratory chain complex defects.
Rocio Rius, Alison G Compton, Lisa G Riley   +2 more
exaly   +4 more sources