Neuromuscular dysfunction and pathogenesis in triosephosphate isomerase deficiency

Autor: Tracey D. Myers, Yizhi Li, Stefanie Taiclet, Paulina Cabada-Aguirre, Emily Kuti, Kaitlin McClure, Christopher Blanchard, Marta Wolosowicz, Gregg E. Homanics, Adam C. Straub, Stephen D. Meriney, Michael J. Palladino

Publikováno v: Scientific Reports, Vol 14, Iss 1, Pp 1-16 (2024)

Abstract Triosephosphate isomerase deficiency (TPI Df) is a rare multisystem disorder with severe neuromuscular symptoms which arises exclusively from mutations within the TPI1 gene. Studies of TPI Df have been limited due to the absence of mammalian

Externí odkaz: https://doaj.org/article/cadf9011a35d4760a00e26990a31124a

Murine model of triosephosphate isomerase deficiency with anemia and severe neuromuscular dysfunction

Autor: Tracey D. Myers, Carolyn Ferguson, Eric Gliniak, Gregg E. Homanics, Michael J. Palladino

Publikováno v: Current Research in Neurobiology, Vol 3, Iss , Pp 100062- (2022)

Triosephosphate isomerase deficiency (TPI Df) is a rare, aggressive genetic disease that typically affects young children and currently has no established treatment. TPI Df is characterized by hemolytic anemia, progressive neuromuscular degeneration,

Externí odkaz: https://doaj.org/article/79c5ac5e12ca420ca08778d42c2affb9

Mutational analysis implicates the amyloid fibril as the toxic entity in Huntington's disease

Autor: Kenneth W. Drombosky, Sascha Rode, Ravi Kodali, Tija C. Jacob, Michael J. Palladino, Ronald Wetzel

Publikováno v: Neurobiology of Disease, Vol 120, Iss , Pp 126-138 (2018)

In Huntington disease (HD), an expanded polyglutamine (polyQ > 37) sequence within huntingtin (htt) exon1 leads to enhanced disease risk. It has proved difficult, however, to determine whether the toxic form generated by polyQ expansion is a misfolde

Externí odkaz: https://doaj.org/article/9884ce11e91d4fe08225fe51b3471656

Identification of protein quality control regulators using a Drosophila model of TPI deficiency

Autor: Stacy L. Hrizo, Samantha L. Eicher, Tracey D. Myers, Ian McGrath, Andrew P.K. Wodrich, Hemanth Venkatesh, Daniel Manjooran, Sabrina Swoger, Kim Gagnon, Matthew Bruskin, Maria V. Lebedev, Sherry Zheng, Ana Vitantonio, Sungyoun Kim, Zachary J. Lamb, Andreas Vogt, Maura R.Z. Ruzhnikov, Michael J. Palladino

Publikováno v: Neurobiology of Disease, Vol 152, Iss , Pp 105299- (2021)

Triosephosphate isomerase (TPI) deficiency (Df) is a rare recessive metabolic disorder that manifests as hemolytic anemia, locomotor impairment, and progressive neurodegeneration. Research suggests that TPI Df mutations, including the “common” TP

Externí odkaz: https://doaj.org/article/40387faf9837432e845ed51feb7d8d99

Standards in semen examination: publishing reproducible and reliable data based on high-quality methodology

Autor: Lars Björndahl, Christopher L R Barratt, David Mortimer, Ashok Agarwal, Robert J Aitken, Juan G Alvarez, Natalie Aneck-Hahn, Stefan Arver, Elisabetta Baldi, Lluís Bassas, Florence Boitrelle, Riana Bornman, Douglas T Carrell, José A Castilla, Gerardo Cerezo Parra, Jerome H Check, Patricia S Cuasnicu, Sally Perreault Darney, Christiaan de Jager, Christopher J De Jonge, Joël R Drevet, Erma Z Drobnis, Stefan S Du Plessis, Michael L Eisenberg, Sandro C Esteves, Evangelini A Evgeni, Alberto Ferlin, Nicolas Garrido, Aleksander Giwercman, Ilse G F Goovaerts, Trine B Haugen, Ralf Henkel, Lars Henningsohn, Marie-Claude Hofmann, James M Hotaling, Piotr Jedrzejczak, Pierre Jouannet, Niels Jørgensen, Jackson C Kirkman Brown, Csilla Krausz, Maciej Kurpisz, Ulrik Kvist, Dolores J Lamb, Hagai Levine, Kate L Loveland, Robert I McLachlan, Ali Mahran, Liana Maree, Sarah Martins da Silva, Michael T Mbizvo, Andreas Meinhardt, Roelof Menkveld, Sharon T Mortimer, Sergey Moskovtsev, Charles H Muller, Maria José Munuce, Monica Muratori, Craig Niederberger, Cristian O’Flaherty, Rafael Oliva, Willem Ombelet, Allan A Pacey, Michael A Palladino, Ranjith Ramasamy, Liliana Ramos, Nathalie Rives, Eduardo Rs Roldan, Susan Rothmann, Denny Sakkas, Andrea Salonia, Maria Cristina Sánchez-Pozo, Rosanna Sapiro, Stefan Schlatt, Peter N Schlegel, Hans-Christian Schuppe, Rupin Shah, Niels E Skakkebæk, Katja Teerds, Igor Toskin, Herman Tournaye, Paul J Turek, Gerhard van der Horst, Monica Vazquez-Levin, Christina Wang, Alex Wetzels, Theodosia Zeginiadou, Armand Zini

Publikováno v: HUMAN REPRODUCTION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Human Reproduction, 37, 2497-2502
Human Reproduction
Human Reproduction, 2022, 37 (11), pp.2497-2502. ⟨10.1093/humrep/deac189⟩
Björndahl, L, Barratt, C L R, Mortimer, D, Agarwal, A, Aitken, R J, Alvarez, J G, Aneck-Hahn, N, Arver, S, Baldi, E, Bassas, L, Boitrelle, F, Bornman, R, Carrell, D T, Castilla, J A, Cerezo Parra, G, Check, J H, Cuasnicu, P S, Darney, S P, de Jager, C, De Jonge, C J, Drevet, J R, Drobnis, E Z, Du Plessis, S S, Eisenberg, M L, Esteves, S C, Evgeni, E A, Ferlin, A, Garrido, N, Giwercman, A, Goovaerts, I G F, Haugen, T B, Henkel, R, Henningsohn, L, Hofmann, M C, Hotaling, J M, Jedrzejczak, P, Jouannet, P, Jørgensen, N, Kirkman Brown, J C, Krausz, C, Kurpisz, M, Kvist, U, Lamb, D J, Levine, H, Loveland, K L, McLachlan, R I, Mahran, A, Maree, L, Martins da Silva, S, Mbizvo, M T, Meinhardt, A, Menkveld, R, Mortimer, S T, Moskovtsev, S, Muller, C H, Munuce, M J, Muratori, M, Niederberger, C, O'Flaherty, C, Oliva, R, Ombelet, W, Pacey, A A, Palladino, M A, Ramasamy, R, Ramos, L, Rives, N, Roldan, E R, Rothmann, S, Sakkas, D, Salonia, A, Sánchez-Pozo, M C, Sapiro, R, Schlatt, S, Schlegel, P N, Schuppe, H C, Shah, R, Skakkebæk, N E, Teerds, K, Toskin, I, Tournaye, H, Turek, P J, van der Horst, G, Vazquez-Levin, M, Wang, C, Wetzels, A, Zeginiadou, T & Zini, A 2022, ' Standards in semen examination : publishing reproducible and reliable data based on high-quality methodology ', Human Reproduction, vol. 37, no. 11, pp. 2497-2502 . https://doi.org/10.1093/humrep/deac189
Human reproduction (Oxford, England) 37 (2022) 11
Human reproduction
Human reproduction (Oxford, England), 37(11), 2497-2502
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

Biomedical science is rapidly developing in terms of more transparency, openness and reproducibility of scientific publications. This is even more important for all studies that are based on results from basic semen examination. Recently two concorda

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7218b3fb5ad10d580776ec380f57e6bc
https://doi.org/10.1093/humrep/deac189