Search: onr:"swepub:oai:gup.ub.gu.se/337791" > A systematic review...
Fältnamn | Indikatorer | Metadata |
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000 | 08096naa a2201657 4500 | |
001 | oai:gup.ub.gu.se/337791 | |
003 | SwePub | |
008 | 240613s2024 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:155392572 | |
024 | 7 | a https://gup.ub.gu.se/publication/3377912 URI |
024 | 7 | a https://doi.org/10.1186/s13195-024-01420-z2 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1553925722 URI |
040 | a (SwePub)gud (SwePub)ki | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Swift, Imogen J4 aut |
245 | 1 0 | a A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors. |
264 | 1 | c 2024 |
520 | a Pathogenic heterozygous mutations in the progranulin gene (GRN) are a key cause of frontotemporal dementia (FTD), leading to significantly reduced biofluid concentrations of the progranulin protein (PGRN). This has led to a number of ongoing therapeutic trials aiming to treat this form of FTD by increasing PGRN levels in mutation carriers. However, we currently lack a complete understanding of factors that affect PGRN levels and potential variation in measurement methods. Here, we aimed to address this gap in knowledge by systematically reviewing published literature on biofluid PGRN concentrations.Published data including biofluid PGRN concentration, age, sex, diagnosis and GRN mutation were collected for 7071 individuals from 75 publications. The majority of analyses (72%) had focused on plasma PGRN concentrations, with many of these (56%) measured with a single assay type (Adipogen) and so the influence of mutation type, age at onset, sex, and diagnosis were investigated in this subset of the data.We established a plasma PGRN concentration cut-off between pathogenic mutation carriers and non-carriers of 74.8ng/mL using the Adipogen assay based on 3301 individuals, with a CSF concentration cut-off of 3.43ng/mL. Plasma PGRN concentration varied by GRN mutation type as well as by clinical diagnosis in those without a GRN mutation. Plasma PGRN concentration was significantly higher in women than men in GRN mutation carriers (p=0.007) with a trend in non-carriers (p=0.062), and there was a significant but weak positive correlation with age in both GRN mutation carriers and non-carriers. No significant association was seen with weight or with TMEM106B rs1990622 genotype. However, higher plasma PGRN levels were seen in those with the GRN rs5848 CC genotype in both GRN mutation carriers and non-carriers.These results further support the usefulness of PGRN concentration for the identification of the large majority of pathogenic mutations in the GRN gene. Furthermore, these results highlight the importance of considering additional factors, such as mutation type, sex and age when interpreting PGRN concentrations. This will be particularly important as we enter the era of trials for progranulin-associated FTD. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng |
653 | a Male | |
653 | a Humans | |
653 | a Female | |
653 | a Progranulins | |
653 | a genetics | |
653 | a Frontotemporal Dementia | |
653 | a genetics | |
653 | a pathology | |
653 | a Intercellular Signaling Peptides and Proteins | |
653 | a genetics | |
653 | a Virulence | |
653 | a Mutation | |
653 | a genetics | |
653 | a Membrane Proteins | |
653 | a genetics | |
653 | a Nerve Tissue Proteins | |
653 | a genetics | |
700 | 1 | a Rademakers, Rosa4 aut |
700 | 1 | a Finch, NiCole4 aut |
700 | 1 | a Baker, Matt4 aut |
700 | 1 | a Ghidoni, Roberta4 aut |
700 | 1 | a Benussi, Luisa4 aut |
700 | 1 | a Binetti, Giuliano4 aut |
700 | 1 | a Rossi, Giacomina4 aut |
700 | 1 | a Synofzik, Matthis4 aut |
700 | 1 | a Wilke, Carlo4 aut |
700 | 1 | a Mengel, David4 aut |
700 | 1 | a Graff, Carolineu Karolinska Institutet4 aut |
700 | 1 | a Takada, Leonel T4 aut |
700 | 1 | a Sánchez-Valle, Raquel4 aut |
700 | 1 | a Antonell, Anna4 aut |
700 | 1 | a Galimberti, Daniela4 aut |
700 | 1 | a Fenoglio, Chiara4 aut |
700 | 1 | a Serpente, Maria4 aut |
700 | 1 | a Arcaro, Marina4 aut |
700 | 1 | a Schreiber, Stefanie4 aut |
700 | 1 | a Vielhaber, Stefan4 aut |
700 | 1 | a Arndt, Philipp4 aut |
700 | 1 | a Santana, Isabel4 aut |
700 | 1 | a Almeida, Maria Rosario4 aut |
700 | 1 | a Moreno, Fermín4 aut |
700 | 1 | a Barandiaran, Myriam4 aut |
700 | 1 | a Gabilondo, Alazne4 aut |
700 | 1 | a Stubert, Johannes4 aut |
700 | 1 | a Gómez-Tortosa, Estrella4 aut |
700 | 1 | a Agüero, Pablo4 aut |
700 | 1 | a Sainz, M José4 aut |
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700 | 1 | a Murakoshi, Maki4 aut |
700 | 1 | a Kamei, Nozomu4 aut |
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700 | 1 | a Reif, Andreas4 aut |
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700 | 1 | a Greither, Thomas4 aut |
700 | 1 | a Theil, Gerit4 aut |
700 | 1 | a Lohmann, Ebba4 aut |
700 | 1 | a Gazzina, Stefano4 aut |
700 | 1 | a Bagnoli, Silvia4 aut |
700 | 1 | a Coppola, Giovanni4 aut |
700 | 1 | a Bruni, Amalia4 aut |
700 | 1 | a Quante, Mirja4 aut |
700 | 1 | a Kiess, Wieland4 aut |
700 | 1 | a Hiemisch, Andreas4 aut |
700 | 1 | a Jurkutat, Anne4 aut |
700 | 1 | a Block, Matthew S4 aut |
700 | 1 | a Carlson, Aaron M4 aut |
700 | 1 | a Bråthen, Geir4 aut |
700 | 1 | a Sando, Sigrid Botne4 aut |
700 | 1 | a Grøntvedt, Gøril Rolfseng4 aut |
700 | 1 | a Lauridsen, Camilla4 aut |
700 | 1 | a Heslegrave, Amanda4 aut |
700 | 1 | a Heller, Carolin4 aut |
700 | 1 | a Abel, Emily4 aut |
700 | 1 | a Gómez-Núñez, Alba4 aut |
700 | 1 | a Puey, Roger4 aut |
700 | 1 | a Arighi, Andrea4 aut |
700 | 1 | a Rotondo, Enmanuela4 aut |
700 | 1 | a Jiskoot, Lize C4 aut |
700 | 1 | a Meeter, Lieke H H4 aut |
700 | 1 | a Durães, João4 aut |
700 | 1 | a Lima, Marisa4 aut |
700 | 1 | a Tábuas-Pereira, Miguel4 aut |
700 | 1 | a Lemos, João4 aut |
700 | 1 | a Boeve, Bradley4 aut |
700 | 1 | a Petersen, Ronald C4 aut |
700 | 1 | a Dickson, Dennis W4 aut |
700 | 1 | a Graff-Radford, Neill R4 aut |
700 | 1 | a LeBer, Isabelle4 aut |
700 | 1 | a Sellami, Leila4 aut |
700 | 1 | a Lamari, Foudil4 aut |
700 | 1 | a Clot, Fabienne4 aut |
700 | 1 | a Borroni, Barbara4 aut |
700 | 1 | a Cantoni, Valentina4 aut |
700 | 1 | a Rivolta, Jasmine4 aut |
700 | 1 | a Lleó, Alberto4 aut |
700 | 1 | a Fortea, Juan4 aut |
700 | 1 | a Alcolea, Daniel4 aut |
700 | 1 | a Illán-Gala, Ignacio4 aut |
700 | 1 | a Andres-Cerezo, Lucie4 aut |
700 | 1 | a Van Damme, Philip4 aut |
700 | 1 | a Clarimon, Jordi4 aut |
700 | 1 | a Steinacker, Petra4 aut |
700 | 1 | a Feneberg, Emily4 aut |
700 | 1 | a Otto, Markus4 aut |
700 | 1 | a van der Ende, Emma L4 aut |
700 | 1 | a van Swieten, John C4 aut |
700 | 1 | a Seelaar, Harro4 aut |
700 | 1 | a Zetterberg, Henrik,d 1973u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry4 aut0 (Swepub:gu)xzethe |
700 | 1 | a Sogorb-Esteve, Aitana4 aut |
700 | 1 | a Rohrer, Jonathan D4 aut |
710 | 2 | a Karolinska Institutetb Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi4 org |
773 | 0 | t Alzheimer's Research & Therapyg 16:1q 16:1x 1758-9193 |
856 | 4 8 | u https://gup.ub.gu.se/publication/337791 |
856 | 4 8 | u https://doi.org/10.1186/s13195-024-01420-z |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:155392572 |
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