6 research outputs found
The need for establishing a universal CTG sizing method in myotonic dystrophy type 1
- Author
- Almendrote MĂriam
- Arbex Andrea
- Ballester-Lopez Alfonsina
- Coll-CantĂ Jaume
- Cumming Sarah A.
- Koehorst Emma
- Linares-Pardo Ian
- Lucente Giuseppe
- Lucia Alejandro
- Magaña Jonathan J.
- MartĂnez-Piñeiro Alicia
- Monckton Darren G.
- Murillo-Melo Nadia M.
- Nogales Gisela
- NĂșñez-ManchĂłn Judit
- Pintos-Morell Guillem
- Ramos-Fransi Alba
- Universitat AutĂČnoma de Barcelona
- Publication venue
- 'MDPI AG'
- Publication date
- 01/01/2020
- Field of study
The number of cytosine-thymine-guanine (CTG) repeats (âCTG expansion sizeâ) in the 3âČuntranslated region (UTR) region of the dystrophia myotonica-protein kinase (DMPK) gene is a hallmark of myotonic dystrophy type 1 (DM1), which has been related to age of disease onset and clinical severity. However, accurate determination of CTG expansion size is challenging due to its characteristic instability. We compared five different approaches (heat pulse extension polymerase chain reaction [PCR], long PCR-Southern blot [with three different primers setsâ1, 2 and 3] and small pool [SP]-PCR) to estimate CTG expansion size in the progenitor allele as well as the most abundant CTG expansion size, in 15 patients with DM1. Our results indicated variability between the methods (although we found no overall differences between long PCR 1 and 2 and SP-PCR, respectively). While keeping in mind the limited sample size of our patient cohort, SP-PCR appeared as the most suitable technique, with an inverse significant correlation found between CTG expansion size of the progenitor allele, as determined by this method, and age of disease onset (r = â0.734, p = 0.016). Yet, in light of the variability of the results obtained with the different methods, we propose that an international agreement is needed to determine which is the most suitable method for assessing CTG expansion size in DM1
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.
- Author
- Abdel-Aziz AK
- Abdelfatah S
- Abdellatif M
- Abdoli A
- Abel S
- Abeliovich H
- Abildgaard MH
- Abudu YP
- Acevedo-Arozena A
- Adamopoulos IE
- Adeli K
- Adolph TE
- Adornetto A
- Aflaki E
- Agam G
- Agarwal A
- Aggarwal BB
- Agnello M
- Agostinis P
- Agrewala JN
- Agrotis A
- Aguilar PV
- Ahmad ST
- Ahmed ZM
- Ahumada-Castro U
- Aits S
- Aizawa S
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- Akoumianaki T
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- Alaoui-Jamali MA
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- Alcocer-GĂłmez E
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- Zwerschke W
- Ălvarez ĂMC
- Ăvalos Y
- Ănal G
- ĂstĂŒn S
- ÄoliÄ M
- ÄokiÄ J
- Ćœerovnik E
- Publication venue
- 'Informa UK Limited'
- Publication date
- 01/01/2021
- Field of study
In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Thus, it is important to formulate on a regular basis updated guidelines for monitoring autophagy in different organisms. Despite numerous reviews, there continues to be confusion regarding acceptable methods to evaluate autophagy, especially in multicellular eukaryotes. Here, we present a set of guidelines for investigators to select and interpret methods to examine autophagy and related processes, and for reviewers to provide realistic and reasonable critiques of reports that are focused on these processes. These guidelines are not meant to be a dogmatic set of rules, because the appropriateness of any assay largely depends on the question being asked and the system being used. Moreover, no individual assay is perfect for every situation, calling for the use of multiple techniques to properly monitor autophagy in each experimental setting. Finally, several core components of the autophagy machinery have been implicated in distinct autophagic processes (canonical and noncanonical autophagy), implying that genetic approaches to block autophagy should rely on targeting two or more autophagy-related genes that ideally participate in distinct steps of the pathway. Along similar lines, because multiple proteins involved in autophagy also regulate other cellular pathways including apoptosis, not all of them can be used as a specific marker for bona fide autophagic responses. Here, we critically discuss current methods of assessing autophagy and the information they can, or cannot, provide. Our ultimate goal is to encourage intellectual and technical innovation in the field
Myotilinopathy unmasked by statin treatment: A case report
- Author
- Publication venue
- 'Wiley'
- Publication date
- 01/01/2018
- Field of study
Sin financiaciĂłn2.393 JCR (2018) Q3, 115/199 Clinical Neurology, 184/261 Neurosciences0.950 SJR (2018) Q2, 134/378 Neurology (clinical), 80/188 Physiology, 45/108 Physiology (medical); Q3, 59/90 Cellular and Molecular NeuroscienceNo data IDR 2018UE
PDGF-BB serum levels are decreased in adult onset Pompe patients
- Author
- Alonso-PĂ©rez J.
- Barba-Romero M.A.
- Barcena J.
- Belmonte I.
- Carrasco-Rozas A.
- Carzorla M.R.
- Coll-CantĂ J.
- Creus C.
- de Luna N.
- Diaz-Manera Jordi.
- DomĂnguez C.
- DĂaz M.
- FernĂĄndez-SimĂłn E.
- FernĂĄndez-TorrĂłn R.
- Figueroa-Bonaparte S.
- Gallardo E.
- GarcĂa-Antelo M.J.
- Grau J.M.
- GĂłmez-Caravaca M.T.
- Illa I.
- LeĂłn-HernĂĄndez J.C.
- Llauger J.
- LĂłpez de MunĂĄin A.
- MartĂnez-GarcĂa F.A.
- Mayos M.
- Montiel E.
- Moreno A.
- Morgado Y.
- MorĂs G.
- Muñoz-Blanco M.A.
- Nascimento A.
- Nuñez-Peralta C.
- Paradas C.
- ParajuĂĄ-Pozo J.L.
- Pedrosa I.
- Querol L.
- Robledo-Strauss A.
- Rojas-GarcĂa R.
- Rojas-Marcos Ă.
- Salazar J.A.
- Segovia S.
- SuĂĄrez-Calvet X.
- Universitat AutĂČnoma de Barcelona
- UsĂłn M.
- Publication venue
- Publication date
- Field of study
Adult onset Pompe disease is a genetic disorder characterized by slowly progressive skeletal and respiratory muscle weakness. Symptomatic patients are treated with enzymatic replacement therapy with human recombinant alfa glucosidase. Motor functional tests and spirometry are commonly used to follow patients up. However, a serological biomarker that correlates with the progression of the disease could improve follow-up. We studied serum concentrations of TGFÎČ, PDGF-BB, PDGF-AA and CTGF growth factors in 37 adult onset Pompe patients and 45 controls. Moreover, all patients performed several muscle function tests, conventional spirometry, and quantitative muscle MRI using 3-point Dixon. We observed a statistically significant change in the serum concentration of each growth factor in patients compared to controls. However, only PDGF-BB levels were able to differentiate between asymptomatic and symptomatic patients, suggesting its potential role in the follow-up of asymptomatic patients. Moreover, our results point to a dysregulation of muscle regeneration as an additional pathomechanism of Pompe disease
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update
- Author
- A Lucia
- A Lucia
- A Martinuzzi
- AA Nadaj-Pakleza
- Adrian GonzĂĄlez-Quintana
- Alberto BlĂĄzquez Encinar
- Alejandro Lucia
- Alfonsina Ballester-Lopez
- Alfredo Santalla
- Antoni L. Andreu
- C Bruno
- C Kubisch
- G Nogales-Gadea
- G Nogales-Gadea
- Gisela Nogales-Gadea
- Guillem Pintos-Morell
- Helios Pareja-Galeano
- I Garcia-Consuegra
- I Garcia-Consuegra
- I Vieitez
- InĂ©s GarcĂa Consuegra
- Irene Vieitez
- J Vissing
- Jaume Coll-CantĂ
- JC Rubio
- JC Rubio
- JL Mate-Munoz
- JoaquĂn Arenas
- Jorge DĂez-Bermejo
- M De Castro
- M Deschauer
- M Perez
- M Perez
- MA Martin
- Margarita PĂ©rez
- Miguel A. MartĂn
- Pablo Serrano-Lorenzo
- Physical activity guidelines for Americans
- R Aquaron
- R Haller
- R Quinlivan
- RG Haller
- RM Malina
- RS Scalco
- S Dimauro
- S Kodama
- Sara Asensio
- TomĂ s PinĂłs
- WHO
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 1
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- Abdel-Aziz A.
- Abdelfatah S.
- Abdellatif M.
- Abdoli A.
- Abel S.
- Abeliovich H.
- Abildgaard M.
- Abudu Y.
- Acevedo-Arozena A.
- Adamopoulos I.
- Adeli K.
- Adolph T.
- Adornetto A.
- Aflaki E.
- Afshar E.
- Agam G.
- Agarwal A.
- Aggarwal B.
- Agnello M.
- Agostinis P.
- Agrewala J.
- Agrotis A.
- Aguilar P.
- Ahmad S.
- Ahmed Z.
- Ahumada-Castro U.
- Aits S.
- Aizawa S.
- Akkoc Y.
- Akoumianaki T.
- Akpinar H.
- Al-Abd A.
- Al-Akra L.
- Al-Bari M.
- Al-Gharaibeh A.
- Alaoui-Jamali M.
- Alberti S.
- Alcocer-GĂłmez E.
- Alessandri C.
- Ali M.
- Aliwaini S.
- Alizadeh J.
- Almacellas E.
- Almasan A.
- Alonso A.
- Alonso G.
- Altan-Bonnet N.
- Altieri D.
- Alves S.
- Alzaharna M.
- Amadio M.
- Amantini C.
- Amaral C.
- Ambrosio S.
- Amer A.
- Amicis F.
- Ammanathan V.
- An Z.
- Andaloussi A.
- Andersen S.
- Andrabi S.
- Andrade-Silva M.
- Andres A.
- Angelini S.
- Ann D.
- Anozie U.
- Ansari M.
- Antas P.
- Antebi A.
- AntĂłn Z.
- Anwar T.
- Apetoh L.
- Apostolova N.
- Araki T.
- Araki Y.
- Arasaki K.
- Araujo T.
- Araya J.
- AraĂșjo W.
- Arden C.
- Arguelles S.
- Arias E.
- Arikkath J.
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- Armstrong-James D.
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- Atanasov A.
- Au A.
- Auberger P.
- Auner H.
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- Autelli R.
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- Aveic S.
- Aveleira C.
- Avin-Wittenberg T.
- Aydin Y.
- Ayton S.
- Ayyadevara S.
- Azzopardi M.
- B R.
- Baba M.
- Backer J.
- Backues S.
- Bae D.
- Bae O.
- Bae S.
- Baehrecke E.
- Baek A.
- Baek S.
- Baek S.
- Bagetta G.
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- Bai Y.
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- Beale R.
- Beau I.
- Beaumatin F.
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- Behrens G.
- Bei R.
- Bejarano E.
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- Belaid A.
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- Bellarosa C.
- Belleudi F.
- Bello-Morales R.
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- Benito-Cuesta I.
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- Berchtold M.
- Berezowska S.
- Bergamaschi D.
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- Bergmann A.
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- Bernard A.
- Bernardo D.
- Berthoux L.
- Besirli C.
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- Betin V.
- Beyaert R.
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- Bhaskar K.
- Bhatia-Kissova I.
- Bhattacharya R.
- Bhattacharya S.
- Bhattacharyya S.
- Bhuiyan M.
- Bhutia S.
- Bi L.
- Bi X.
- Biden T.
- Bijian K.
- Billes V.
- Binart N.
- Bincoletto C.
- Birgisdottir A.
- Bjorkoy G.
- Blanco G.
- Blas-Garcia A.
- Blasiak J.
- Blomgran R.
- Blomgren K.
- Blum J.
- Boada-Romero E.
- Boban M.
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- Boeuf P.
- Boland B.
- Bomont P.
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- Boone B.
- Bootman M.
- Bordi M.
- Borner C.
- Bornhauser B.
- Borthakur G.
- Bosch J.
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- Bosscher K.
- Botana L.
- Botas J.
- Boulanger C.
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- Bourgeois B.
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- Boya P.
- Bozhkov P.
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- Brackney D.
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- Publication venue
- 'Informa UK Limited'
- Publication date
- 08/02/2021
- Field of study