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Article ; Online: Stress granule and P-body clearance: Seeking coherence in acts of disappearance.

Buchan, J Ross

Seminars in cell & developmental biology

2024 Volume 159-160, Page(s) 10–26

Abstract: Stress granules and P-bodies are conserved cytoplasmic biomolecular condensates whose assembly and ... post-translational modifications, RNA helicases, granulophagy and the proteasome to stress granule and P-body clearance ... in the interaction networks of stress granules and P-bodies as means of eliciting clearance. Finally, I discuss ...

Abstract	Stress granules and P-bodies are conserved cytoplasmic biomolecular condensates whose assembly and composition are well documented, but whose clearance mechanisms remain controversial or poorly described. Such understanding could provide new insight into how cells regulate biomolecular condensate formation and function, and identify therapeutic strategies in disease states where aberrant persistence of stress granules in particular is implicated. Here, I review and compare the contributions of chaperones, the cytoskeleton, post-translational modifications, RNA helicases, granulophagy and the proteasome to stress granule and P-body clearance. Additionally, I highlight the potentially vital role of RNA regulation, cellular energy, and changes in the interaction networks of stress granules and P-bodies as means of eliciting clearance. Finally, I discuss evidence for interplay of distinct clearance mechanisms, suggest future experimental directions, and suggest a simple working model of stress granule clearance.
MeSH term(s)	Processing Bodies ; Stress Granules ; Cytoplasmic Granules ; RNA Helicases ; Cytoplasm
Chemical Substances	RNA Helicases (EC 3.6.4.13)
Language	English
Publishing date	2024-01-25
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	1312473-0
ISSN	1096-3634 ; 1084-9521
ISSN (online)	1096-3634
ISSN	1084-9521
DOI	10.1016/j.semcdb.2024.01.002
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Article ; Online: Valosin-containing-protein pathogenic variant p.R487H in Parkinson's disease.

Piat, Capucine / Ross, Owen A / Springer, Wolfdieter / Benarroch, Eduardo E / Layne Moore, J / Lauer, Emily / Niu, Zhiyv / Savica, Rodolfo

Clinical parkinsonism & related disorders

2024 Volume 10, Page(s) 100236

Abstract: We describe a 66-year-old woman with Parkinson's disease, carrying a known pathogenic missense variant in the Valosin-containing-protein ( ...

Abstract	We describe a 66-year-old woman with Parkinson's disease, carrying a known pathogenic missense variant in the Valosin-containing-protein (
Language	English
Publishing date	2024-01-18
Publishing country	England
Document type	Journal Article
ISSN	2590-1125
ISSN (online)	2590-1125
DOI	10.1016/j.prdoa.2024.100236
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Article ; Online: Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.

Milanowski, Lukasz M / Hou, Xu / Bredenberg, Jenny M / Fiesel, Fabienne C / Cocker, Liam T / Soto-Beasley, Alexandra I / Walton, Ronald L / Strongosky, Audrey J / Faroqi, Ayman H / Barcikowska, Maria / Boczarska-Jedynak, Magdalena / Dulski, Jaroslaw / Fedoryshyn, Lyuda / Janik, Piotr / Potulska-Chromik, Anna / Karpinsky, Katherine / Krygowska-Wajs, Anna / Lynch, Tim / Olszewska, Diana A /

Opala, Grzegorz / Pulyk, Aleksander / Rektorova, Irena / Sanotsky, Yanosh / Siuda, Joanna / Widlak, Mariusz / Slawek, Jaroslaw / Rudzinska-Bar, Monika / Uitti, Ryan / Figura, Monika / Szlufik, Stanislaw / Rzonca-Niewczas, Sylwia / Podgorska, Elzbieta / McLean, Pamela J / Koziorowski, Dariusz / Ross, Owen A / Hoffman-Zacharska, Dorota / Springer, Wolfdieter / Wszolek, Zbigniew K

International journal of molecular sciences

2022 Volume 23, Issue 13

Abstract: Parkinson's disease (PD) is generally considered a sporadic disorder, but a strong genetic background is often found. The aim of this study was to identify the underlying genetic cause of PD in two affected siblings and to subsequently assess the role of ...

Abstract	Parkinson's disease (PD) is generally considered a sporadic disorder, but a strong genetic background is often found. The aim of this study was to identify the underlying genetic cause of PD in two affected siblings and to subsequently assess the role of mutations in Cathepsin B
MeSH term(s)	Cathepsin B/genetics ; Cathepsin B/metabolism ; Genotype ; Heterozygote ; Humans ; Parkinson Disease/genetics ; Penetrance
Chemical Substances	CTSB protein, human (EC 3.4.22.1) ; Cathepsin B (EC 3.4.22.1)
Language	English
Publishing date	2022-06-25
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms23137086
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Article ; Online: Management of pregnancy in autoimmune rheumatic diseases: maternal disease course, gestational and neonatal outcomes and use of medications in the prospectiveItalian P-RHEUM.it study.

Andreoli, Laura / Gerardi, Maria Chiara / Gerosa, Maria / Rozza, Davide / Crisafulli, Francesca / Erra, Roberta / Lini, Daniele / Trespidi, Laura / Padovan, Melissa / Ruffilli, Francesca / Serale, Francesca / Cuomo, Giovanna / Raffeiner, Bernd / Semeraro, Paolo / Tani, Chiara / Chimenti, Maria Sole / Conigliaro, Paola / Hoxha, Ariela / Nalli, Cecilia /

Fredi, Micaela / Lazzaroni, Maria Grazia / Filippini, Matteo / Taglietti, Marco / Franceschini, Franco / Zatti, Sonia / Loardi, Chiara / Orabona, Rossana / Ramazzotto, Francesca / Zanardini, Cristina / Fontana, Giulia / Gozzoli, Giorgia / Barison, Claudia / Bizioli, Paola / Caporali, Roberto Felice / Carrea, Giulia / Ossola, Manuela Wally / Maranini, Beatrice / Silvagni, Ettore / Govoni, Marcello / Morano, Danila / Verteramo, Rosita / Doria, Andrea / Del Ross, Teresa / Favaro, Maria / Calligaro, Antonia / Tonello, Marta / Larosa, Maddalena / Zen, Margherita / Zambon, Alessandra / Mosca, Marta / Zucchi, Dina / Elefante, Elena / Gori, Sabrina / Iannone, Florenzo / Anelli, Maria Grazia / Lavista, Marlea / Abbruzzese, Anna / Fasano, Carlo Giuseppe / D'Angelo, Salvatore / Cutro, Maria Stefania / Picerno, Valentina / Carbone, Teresa / Padula, Angela Anna / Rovere-Querini, Patrizia / Canti, Valentina / De Lorenzo, Rebecca / Cavallo, Ludovica / Ramoni, Véronique / Montecucco, Carlomaurizio / Codullo, Veronica / Milanesi, Alessandra / Pazzola, Giulia / Comitini, Giuseppina / Marvisi, Chiara / Salvarani, Carlo / Epis, Oscar Massimiliano / Benedetti, Sara / Di Raimondo, Giuseppina / Gagliardi, Clizia / Lomater, Claudia / Crepaldi, Gloria / Bellis, Elisa / Bellisai, Francesca / Garcia Gonzalez, Estrella / Pata, Anna Paola / Zerbinati, Martina / Urban, Maria Letizia / Mattioli, Irene / Iuliano, Annamaria / Sebastiani, Giandomenico / Brucato, Antonio Luca / Bizzi, Emanuele / Cutolo, Maurizio / Santo, Leonardo / Tonetta, Sara / Landolfi, Gianpiero / Carrara, Greta / Bortoluzzi, Alessandra / Scirè, Carlo Alberto / Tincani, Angela

RMD open

2024 Volume 10, Issue 2

Abstract: ... in the Italian prospective cohort study P-RHEUM.it.: Methods: Pregnant women with different ARD were enrolled ...

Abstract	Objectives: To investigate pregnancy outcomes in women with autoimmune rheumatic diseases (ARD) in the Italian prospective cohort study P-RHEUM.it. Methods: Pregnant women with different ARD were enrolled for up to 20 gestational weeks in 29 Rheumatology Centres for 5 years (2018-2023). Maternal and infant information were collected in a web-based database. Results: We analysed 866 pregnancies in 851 patients (systemic lupus erythematosus was the most represented disease, 19.6%). Maternal disease flares were observed in 135 (15.6%) pregnancies. 53 (6.1%) pregnancies were induced by assisted reproduction techniques, 61 (7%) ended in miscarriage and 11 (1.3%) underwent elective termination. Obstetrical complications occurred in 261 (30.1%) pregnancies, including 2.3% pre-eclampsia. Two cases of congenital heart block were observed out of 157 pregnancies (1.3%) with anti-Ro/SSA. Regarding treatments, 244 (28.2%) pregnancies were treated with glucocorticoids, 388 (44.8%) with hydroxychloroquine, 85 (9.8%) with conventional synthetic disease-modifying anti-rheumatic drugs and 122 (14.1%) with biological disease-modifying anti-rheumatic drugs. Live births were 794 (91.7%), mostly at term (84.9%); four perinatal deaths (0.5%) occurred. Among 790 newborns, 31 (3.9%) were small-for-gestational-age and 169 (21.4%) had perinatal complications. Exclusive maternal breast feeding was received by 404 (46.7%) neonates. The Edinburgh Postnatal Depression Scale was compiled by 414 women (52.4%); 89 (21.5%) scored positive for emotional distress. Conclusions: Multiple factors including preconception counselling and treat-to-target with pregnancy-compatible medications may have contributed to mitigate disease-related risk factors, yielding limited disease flares, good pregnancy outcomes and frequency of complications which were similar to the Italian general obstetric population. Disease-specific issues need to be further addressed to plan preventative measures.
MeSH term(s)	Humans ; Pregnancy ; Female ; Adult ; Prospective Studies ; Autoimmune Diseases/epidemiology ; Autoimmune Diseases/drug therapy ; Pregnancy Outcome/epidemiology ; Rheumatic Diseases/drug therapy ; Rheumatic Diseases/epidemiology ; Rheumatic Diseases/complications ; Infant, Newborn ; Pregnancy Complications/epidemiology ; Pregnancy Complications/drug therapy ; Antirheumatic Agents/therapeutic use ; Antirheumatic Agents/adverse effects ; Italy/epidemiology ; Glucocorticoids/therapeutic use ; Hydroxychloroquine/therapeutic use ; Hydroxychloroquine/adverse effects
Chemical Substances	Antirheumatic Agents ; Glucocorticoids ; Hydroxychloroquine (4QWG6N8QKH)
Language	English
Publishing date	2024-04-24
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Multicenter Study
ZDB-ID	2812592-7
ISSN	2056-5933 ; 2056-5933
ISSN (online)	2056-5933
ISSN	2056-5933
DOI	10.1136/rmdopen-2024-004091
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Article ; Online: Individuals with chronic epilepsy have elevated P-wave heterogeneity comparable to patients with atrial fibrillation.

Fialho, Guilherme L / Pang, Trudy D / Kong, Wan Yee / Tran, Anthony P / Yu, Calvin G / Rodriguez, Ivo D / Nearing, Bruce D / Waks, Jonathan W / Maher, Timothy R / Clarke, John-Ross / Shepherd, Alyssa / D'Avila, Andre / Schachter, Steven C / Verrier, Richard L

Epilepsia

2023 Volume 64, Issue 9, Page(s) 2361–2372

Abstract: ... arrhythmia in people with epilepsy.: Methods: We analyzed inter-lead heterogeneity of P-wave morphology ... also assessed. We calculated P-wave heterogeneity (PWH) by second central moment analysis ... cohort was older (66 ± 1.1 years) than the epilepsy group (44 ± 1.8 years, p < .001). The level of PWH ...

Abstract	Objective: Identification of epilepsy patients with elevated risk for atrial fibrillation (AF) is critical given the heightened morbidity and premature mortality associated with this arrhythmia. Epilepsy is a worldwide health problem affecting nearly 3.4 million people in the United States alone. The potential for increased risk for AF in patients with epilepsy is not well appreciated, despite recent evidence from a national survey of 1.4 million hospitalizations indicating that AF is the most common arrhythmia in people with epilepsy. Methods: We analyzed inter-lead heterogeneity of P-wave morphology, a marker reflecting arrhythmogenic nonuniformities of activation/conduction in atrial tissue. The study groups consisted of 96 patients with epilepsy and 44 consecutive patients with AF in sinus rhythm before clinically indicated ablation. Individuals without cardiovascular or neurological conditions (n = 77) were also assessed. We calculated P-wave heterogeneity (PWH) by second central moment analysis of simultaneous beats from leads II, III, and aVR ("atrial dedicated leads") from standard 12-lead electrocardiography (ECG) recordings from admission day to the epilepsy monitoring unit (EMU). Results: Female patients composed 62.5%, 59.6%, and 57.1% of the epilepsy, AF, and control subjects, respectively. The AF cohort was older (66 ± 1.1 years) than the epilepsy group (44 ± 1.8 years, p < .001). The level of PWH was greater in the epilepsy group than in the control group (67 ± 2.6 vs. 57 ± 2.5 μV, p = .046) and reached levels observed in AF patients (67 ± 2.6 vs. 68 ± 4.9 μV, p = .99). In multiple linear regression analysis, PWH levels in individuals with epilepsy were mainly correlated with the PR interval and could be related to sympathetic tone. Epilepsy remained associated with PWH after adjustments for cardiac risk factors, age, and sex. Significance: Patients with chronic epilepsy have increased PWH comparable to levels observed in patients with AF, while being ~20 years younger, suggesting an acceleration in structural change and/or cardiac electrical instability. These observations are consistent with emerging evidence of an "epileptic heart" condition.
MeSH term(s)	Humans ; Female ; Atrial Fibrillation/complications ; Atrial Fibrillation/surgery ; Heart Atria ; Electrocardiography ; Heart Rate ; Epilepsy/complications
Language	English
Publishing date	2023-06-28
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	216382-2
ISSN	1528-1167 ; 0013-9580
ISSN (online)	1528-1167
ISSN	0013-9580
DOI	10.1111/epi.17686
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Zs.A 517: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 475: Show issues

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Article ; Online: Stress granules and P-bodies - New ideas and experimental models worth exploring.

Buchan, J Ross

Seminars in cell & developmental biology

2024 Volume 158, Page(s) 1–2

MeSH term(s)	Stress Granules ; Processing Bodies ; Protein Biosynthesis ; RNA, Messenger/metabolism ; Models, Theoretical ; Cytoplasmic Granules ; Stress, Physiological
Chemical Substances	RNA, Messenger
Language	English
Publishing date	2024-01-16
Publishing country	England
Document type	Editorial
ZDB-ID	1312473-0
ISSN	1096-3634 ; 1084-9521
ISSN (online)	1096-3634
ISSN	1084-9521
DOI	10.1016/j.semcdb.2024.01.003
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Book ; Online: DNSMOS P.835

Reddy, Chandan K A / Gopal, Vishak / Cutler, Ross

A Non-Intrusive Perceptual Objective Speech Quality Metric to Evaluate Noise Suppressors

2021

Abstract: ... the scores from ITU-T Rec. P.808 subjective evaluation. The P.808 scores reflect the overall quality ... of the audio clip. ITU-T Rec. P.835 subjective evaluation framework gives the standalone quality scores ... metric based on P.835 human ratings that outputs 3 scores: i) speech quality (SIG), ii) background noise ...

Abstract	Human subjective evaluation is the gold standard to evaluate speech quality optimized for human perception. Perceptual objective metrics serve as a proxy for subjective scores. We have recently developed a non-intrusive speech quality metric called Deep Noise Suppression Mean Opinion Score (DNSMOS) using the scores from ITU-T Rec. P.808 subjective evaluation. The P.808 scores reflect the overall quality of the audio clip. ITU-T Rec. P.835 subjective evaluation framework gives the standalone quality scores of speech and background noise in addition to the overall quality. In this work, we train an objective metric based on P.835 human ratings that outputs 3 scores: i) speech quality (SIG), ii) background noise quality (BAK), and iii) the overall quality (OVRL) of the audio. The developed metric is highly correlated with human ratings, with a Pearson's Correlation Coefficient (PCC)=0.94 for SIG and PCC=0.98 for BAK and OVRL. This is the first non-intrusive P.835 predictor we are aware of. DNSMOS P.835 is made publicly available as an Azure service. Comment: arXiv admin note: substantial text overlap with arXiv:2010.15258
Keywords	Electrical Engineering and Systems Science - Audio and Speech Processing ; Computer Science - Sound
Subject code	006
Publishing date	2021-10-04
Publishing country	us
Document type	Book ; Online
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Article: Amplified sinus-P-wave analysis predicts outcomes of cryoballoon ablation in patients with persistent and long-standing persistent atrial fibrillation: A multicentre study.

Creta, Antonio / Venier, Sandrine / Tampakis, Konstantinos / Providencia, Rui / Sunny, Juno / Defaye, Pascal / Earley, Mark J / Finlay, Malcolm / Hunter, Ross J / Lambiase, Pier D / Papageorgiou, Nikolaos / Schilling, Richard J / Sporton, Simon / Andrikopoulos, George / Deschamps, Elodie / Albenque, Jean-Paul / Cardin, Christèle / Combes, Nicolas / Combes, Stéphane /

Vinolas, Xavier / Moreno-Weidmann, Zoraida / Huang, Taiyuan / Eichenlaub, Martin / Müller-Edenborn, Björn / Arentz, Thomas / Jadidi, Amir S / Boveda, Serge

Frontiers in cardiovascular medicine

2023 Volume 10, Page(s) 1110165

Abstract: ... of amplified P-wave (APW) was measured from a digitally recorded 12-lead electrocardiogram during the procedure ...

Abstract	Introduction: Outcomes of catheter ablation for non-paroxysmal atrial fibrillation (AF) remain suboptimal. Non-invasive stratification of patients based on the presence of atrial cardiomyopathy (ACM) could allow to identify the best responders to pulmonary vein isolation (PVI). Methods: Observational multicentre retrospective study in patients undergoing cryoballoon-PVI for non-paroxysmal AF. The duration of amplified P-wave (APW) was measured from a digitally recorded 12-lead electrocardiogram during the procedure. If patients were in AF, direct-current cardioversion was performed to allow APW measurement in sinus rhythm. An APW cut-off of 150 ms was used to identify patients with significant ACM. We assessed freedom from arrhythmia recurrence at long-term follow-up in patients with APW ≥ 150 ms vs. APW < 150 ms. Results: We included 295 patients (mean age 62.3 ± 10.6), of whom 193 (65.4%) suffered from persistent AF and the remaining 102 (34.6%) from long-standing persistent AF. One-hundred-forty-two patients (50.2%) experienced arrhythmia recurrence during a mean follow-up of 793 ± 604 days. Patients with APW ≥ 150 ms had a significantly higher recurrence rate post ablation compared to those with APW < 150 ms (57.0% vs. 41.6%; log-rank Conclusion: APW duration predicts arrhythmia recurrence post cryoballoon-PVI in persistent and long-standing persistent AF. An APW cut-off of 150 ms allows to identify patients with significant ACM who have worse outcomes post PVI. Analysis of APW represents an easy, non-invasive and highly reproducible diagnostic tool which allows to identify patients who are the most likely to benefit from PVI-only approach.
Language	English
Publishing date	2023-03-27
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2781496-8
ISSN	2297-055X
ISSN	2297-055X
DOI	10.3389/fcvm.2023.1110165
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Article ; Online: Adduct-based p-doping of organic semiconductors.

Sakai, Nobuya / Warren, Ross / Zhang, Fengyu / Nayak, Simantini / Liu, Junliang / Kesava, Sameer V / Lin, Yen-Hung / Biswal, Himansu S / Lin, Xin / Grovenor, Chris / Malinauskas, Tadas / Basu, Aniruddha / Anthopoulos, Thomas D / Getautis, Vytautas / Kahn, Antoine / Riede, Moritz / Nayak, Pabitra K / Snaith, Henry J

Nature materials

2021 Volume 20, Issue 9, Page(s) 1248–1254

Abstract: ... we report dimethyl sulfoxide adducts as p-dopants that fulfil these conditions for a range of organic ... of counterion. We demonstrate that asymmetric p-doping is possible using solution processing routes, and ...

Abstract	Electronic doping of organic semiconductors is essential for their usage in highly efficient optoelectronic devices. Although molecular and metal complex-based dopants have already enabled significant progress of devices based on organic semiconductors, there remains a need for clean, efficient and low-cost dopants if a widespread transition towards larger-area organic electronic devices is to occur. Here we report dimethyl sulfoxide adducts as p-dopants that fulfil these conditions for a range of organic semiconductors. These adduct-based dopants are compatible with both solution and vapour-phase processing. We explore the doping mechanism and use the knowledge we gain to 'decouple' the dopants from the choice of counterion. We demonstrate that asymmetric p-doping is possible using solution processing routes, and demonstrate its use in metal halide perovskite solar cells, organic thin-film transistors and organic light-emitting diodes, which showcases the versatility of this doping approach.
Language	English
Publishing date	2021-04-22
Publishing country	England
Document type	Journal Article ; Research Support, U.S. Gov't, Non-P.H.S. ; Research Support, Non-U.S. Gov't
ZDB-ID	2088679-2
ISSN	1476-4660 ; 1476-1122
ISSN (online)	1476-4660
ISSN	1476-1122
DOI	10.1038/s41563-021-00980-x
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Article ; Online: Identification and characterization of RNA binding sites for (p)ppGpp using RNA-DRaCALA.

Jagodnik, Jonathan / Tjaden, Brian / Ross, Wilma / Gourse, Richard L

Nucleic acids research

2023 Volume 51, Issue 2, Page(s) 852–869

Abstract: ... to bind (p)ppGpp. Most of the aptamers bound both ppGpp and pppGpp, but some strongly favored only ppGpp ...

Abstract	Ligand-binding RNAs (RNA aptamers) are widespread in the three domains of life, serving as sensors of metabolites and other small molecules. When aptamers are embedded within RNA transcripts as components of riboswitches, they can regulate gene expression upon binding their ligands. Previous methods for biochemical validation of computationally predicted aptamers are not well-suited for rapid screening of large numbers of RNA aptamers. Therefore, we utilized DRaCALA (Differential Radial Capillary Action of Ligand Assay), a technique designed originally to study protein-ligand interactions, to examine RNA-ligand binding, permitting rapid screening of dozens of RNA aptamer candidates concurrently. Using this method, which we call RNA-DRaCALA, we screened 30 ykkC family subtype 2a RNA aptamers that were computationally predicted to bind (p)ppGpp. Most of the aptamers bound both ppGpp and pppGpp, but some strongly favored only ppGpp or pppGpp, and some bound neither. Expansion of the number of biochemically verified sites allowed construction of more accurate secondary structure models and prediction of key features in the aptamers that distinguish a ppGpp from a pppGpp binding site. To demonstrate that the method works with other ligands, we also used RNA DRaCALA to analyze aptamer binding by thiamine pyrophosphate.
MeSH term(s)	Aptamers, Nucleotide/chemistry ; Binding Sites ; Guanosine Pentaphosphate/metabolism ; Ligands ; Riboswitch ; RNA, Bacterial/genetics ; Biochemistry/methods
Chemical Substances	Aptamers, Nucleotide ; Guanosine Pentaphosphate (38918-96-6) ; Ligands ; Riboswitch ; RNA, Bacterial
Language	English
Publishing date	2023-01-04
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	186809-3
ISSN	1362-4962 ; 1362-4954 ; 0301-5610 ; 0305-1048
ISSN (online)	1362-4962 ; 1362-4954
ISSN	0301-5610 ; 0305-1048
DOI	10.1093/nar/gkac1224
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