Results 11 to 20 of about 1,648 (159)

PNPT1 Spectrum Disorders: An Underrecognized and Complex Group of Neurometabolic Disorders [PDF]

Muscles
An 18-year-old man presented with slowly progressive infancy-onset spasticity of the lower limbs and cerebellar ataxia, associated with painless strabismus, intellectual disability, urinary incontinence, bilateral progressive visual loss, and cognitive ...
Paulo Sgobbi, Igor Braga Farias, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Hélvia Bertoldo de Oliveira, Alana Strucker Barbosa, Camila Alves Pereira, Vanessa de Freitas Moreira, Marco Antônio Troccoli Chieia, Adriel Rêgo Barbosa, Pedro Henrique Almeida Fraiman, Vinícius Lopes Braga, Roberta Ismael Lacerda Machado, Sophia Luiz Calegaretti, Isabela Danziato Fernandes, Roberta Correa Ribeiro, Marco Antonio Orsini Neves, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira   +18 more
doaj   +3 more sources

SP1 and NFY Regulate the Expression of PNPT1, a Gene Encoding a Mitochondrial Protein Involved in Cancer. [PDF]

Int J Mol Sci, 2022
The Polyribonucleotide nucleotidyltransferase 1 gene (PNPT1) encodes polynucleotide phosphorylase (PNPase), a 30-50 exoribonuclease involved in mitochondrial RNA degradation and surveillance and RNA import into the mitochondrion.
Ventura I, Revert F, Revert-Ros F, Gómez-Tatay L, Prieto-Ruiz JA, Hernández-Andreu JM.   +5 more
europepmc   +6 more sources

Pnpt1 mediates NLRP3 inflammasome activation by MAVS and metabolic reprogramming in macrophages [PDF]

Cellular and Molecular Immunology, 2023
AbstractPolyribonucleotide nucleotidyltransferase 1 (Pnpt1) plays critical roles in mitochondrial homeostasis by controlling mitochondrial RNA (mt-RNA) processing, trafficking and degradation. Pnpt1 deficiency results in mitochondrial dysfunction that triggers a Type I interferon response, suggesting a role in inflammation.
Chia George Hsu, Mark Sowden, Bradford C Berk   +2 more
exaly   +4 more sources

Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy. [PDF]

Eur J Neurol
ABSTRACTBackgroundBiallelic variants in polyribonucleotide‐nucleotidyltransferase‐1 (PNPT1) have been associated with a range of phenotypes from syndromic hearing loss to Leigh's syndrome. More recently, heterozygous variants in PNPT1, have been reported in three families with cerebellar ataxia and prominent sensory neuropathy.MethodsWhole genome ...
Haddad S, Record CJ, Self E, Skorupinska M, Rossor AM, Laura M, Ingle G, Manzur A, Muntoni F, Blake JC, Reilly MM.   +10 more
europepmc   +4 more sources

A mitochondria-to-nucleus regulation mediated by the nuclear-translocated mitochondrial lncRNAs. [PDF]

PLoS Genetics
A bidirectional nucleus-mitochondria communication is essential for homeostasis and stress. By acting as critical molecules, the nuclear-encoded lncRNAs (nulncRNAs) have been implicated in the nucleus-to-mitochondria anterograde regulation. However, role
Jia Li, Ruoling Bai, Yulian Zhou, Xu Song, Ling Li   +4 more
doaj   +2 more sources

Utilizing an integrated bioinformatics and machine learning approach to uncover biomarkers linking ulcerative colitis to purine metabolism-related genes [PDF]

Heliyon
Background: Ulcerative colitis (UC) is an increasing incidence of inflammatory disorder in the colon mucosa. One of the current research focuses is the alteration of metabolic networks in UC.
Tian Chen, Yiqiu Tao, Qingyuan Wang, Yanni Pei, Zhenhua Zhao, Wei Yang, Yafeng Lu   +6 more
doaj   +2 more sources

Nano-flow cytometry unveils mitochondrial permeability transition process and multi-pathway cell death induction for cancer therapy [PDF]

Cell Death Discovery
Mitochondrial permeability transition (mPT)-mediated mitochondrial dysfunction plays a pivotal role in various human diseases. However, the intricate details of its mechanisms and the sequence of events remain elusive, primarily due to the interference ...
Liyun Su, Jingyi Xu, Cheng Lu, Kaimin Gao, Yunyun Hu, Chengfeng Xue, Xiaomei Yan   +6 more
doaj   +2 more sources

No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases. [PDF]

Eur J Immunol
Investigation of IFN signaling in cultured skin fibroblasts from patients with genetically confirmed mitochondrial diseases of diverse origins revealed that altered IFN signaling is an inconsistent feature of these disorders. Cytosolic accumulation of mtDNA and mtRNA was variably detected and showed little correlation with ISG scores.
Marchais M, Pennisi A, Pierga A, Lepelley A, Cagnard N, Bole C, Nitschke P, Hamici M, Rieux-Laucat F, Schiff M, Munnich A, Rötig A.   +11 more
europepmc   +2 more sources

cGAS/STING-Independent Induction of Type I Interferon by Inhibitors of the Histone Methylase KDM5B. [PDF]

FASEB J
Mechanism of HEXIM1 regulation of Type I Interferon. ABSTRACT Studies support the role of hexamethylene bis‐acetamide [HMBA] induced protein 1 (HEXIM1) as a tumor suppressor. We previously reported that the histone demethylase, KDM5B, inhibits the expression of HEXIM1, and KDM5B inhibitors (KDM5Bi) upregulate HEXIM1 expression. As a consequence, KDM5Bi
Montano MM, Yeh IJ, Ketchart W.
europepmc   +2 more sources

ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome. [PDF]

J Peripher Nerv Syst
ABSTRACT Background Sensory ataxic neuropathies (SAN) are rare large fibre sensory neuropathies characterised by progressive sensory loss and ataxia. They may be inherited or acquired. When inherited they are more commonly seen as part of a broader syndrome involving cerebellar ataxia or mitochondrial dysfunction.
Haddad S, Poh R, Hehir J, Polke JM, Blake J, Reilly MM.   +5 more
europepmc   +2 more sources