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Akademický článek

Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis

Autor: Fatima Alabdulrazzaq, Talal Alanzi, Haya H. Al‐Balool, Alice Gardham, Emma Wakeling, Harry G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M. Vaz, Aida M. Bertoli‐Avella, Dana Marafi

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)

Abstract Background Very long‐chain fatty acids (VLCFAs) composed of more than 20 carbon atoms are essential in the biosynthesis of cell membranes in the brain, skin, and retina. VLCFAs are elongated beyond 28 carbon atoms by ELOVL4 enzyme. Variant

Externí odkaz: https://doaj.org/article/c1b6f0f9da914f4fab255230f81999df

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Akademický článek

PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy

Autor: Hormos Salimi Dafsari, Joshua G. Pemberton, Elizabeth A. Ferrer, Tony Yammine, Chantal Farra, Mohammad Hasan Mohammadi, Ehsan Ghayoor Karimiani, Narges Hashemi, Mirna Souaid, Sandra Sabbagh, Paria Najarzadeh Torbati, Suliman Khan, Emmanuel Roze, Andres Moreno‐De‐Luca, Aida M. Bertoli‐Avella, Henry Houlden, Tamas Balla, Reza Maroofian

Publikováno v: Annals of Clinical and Translational Neurology, Vol 9, Iss 9, Pp 1345-1358 (2022)

Abstract Objective Intracellular signaling networks rely on proper membrane organization to control an array of cellular processes such as metabolism, proliferation, apoptosis, and macroautophagy in eukaryotic cells and organisms. Phosphatidylinosito

Externí odkaz: https://doaj.org/article/e661a9bb4241478abb777acab28ee5c0

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Akademický článek

Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100833- (2023)

Purpose: With this study, we aimed to explore the gene-disease relationship (GDR) evidence for 109 gene-disease pairs and the significance of a large Biodatabank for this classification. Methods: The Clinical Genome Resource (ClinGen) Clinical Validi

Externí odkaz: https://doaj.org/article/5646c2cad13543d692abf4b0e83ef3f2

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Akademický článek

Immune dysregulation caused by homozygous mutations in CBLB

Publikováno v: The Journal of Clinical Investigation, Vol 132, Iss 20 (2022)

CBL-B is an E3 ubiquitin ligase that ubiquitinates proteins downstream of immune receptors to downregulate positive signaling cascades. Distinct homozygous mutations in CBLB were identified in 3 unrelated children with early-onset autoimmunity, one o

Externí odkaz: https://doaj.org/article/39932b8ac161497cb818bcd607e93a5c

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Akademický článek

Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

Galloway-Mowat syndrome is a rare autosomal recessive disease characterized by a unique combination of renal and neurological manifestations, including early-onset steroid-resistant nephrotic syndrome, microcephaly, psychomotor delay, and gyral abnor

Externí odkaz: https://doaj.org/article/8db6644c11c4473ea480bba4e547fa50

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Akademický článek

Biology and distribution of Danube barbel (Barbus balcanicus) (Osteichthyes: Cyprinidae) at the Northwestern limit of its range

Autor: M. Bertoli, E. Pizzul, V. Devescovi, F. Franz, P. Pastorino, P. G. Giulianini, C. Ferrari, F. Nonnis Marzano

Publikováno v: The European Zoological Journal, Vol 86, Iss 1, Pp 280-293 (2019)

Presence of Danube barbel Barbus balcanicus was investigated at the westernmost portion of its distribution area (Italian portion of the Isonzo River Basin). Genetic analyses carried out on specimens collected in different watercourses confirmed B. b

Externí odkaz: https://doaj.org/article/95d24ee13e9e42019dc5eddc68a893a6

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Akademický článek

The Ribbon-Helix-Helix Domain Protein CdrS Regulates the Tubulin Homolog ftsZ2 To Control Cell Division in Archaea

Autor: Cynthia L. Darnell, Jenny Zheng, Sean Wilson, Ryan M. Bertoli, Alexandre W. Bisson-Filho, Ethan C. Garner, Amy K. Schmid

Publikováno v: mBio, Vol 11, Iss 4 (2020)

ABSTRACT Precise control of the cell cycle is central to the physiology of all cells. In prior work we demonstrated that archaeal cells maintain a constant size; however, the regulatory mechanisms underlying the cell cycle remain unexplored in this d

Externí odkaz: https://doaj.org/article/efe91ec2cd5b4204ab3646133fe6130f

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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Autor: Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, Reshmi Ramakrishnan, Kristina Lanko, Nikolas A. Kühn, Herma C. van der Linde, Sarah Lor-Zade, Fatimah Albuainain, Yuwei Shi, Soheil Yousefi, Ivan Capo, Evita Medici van den Herik, Marjon van Slegtenhorst, Rick van Minkelen, Geert Geeven, Monique T. Mulder, George J. G. Ruijter, Dieter Lütjohann, Edwin H. Jacobs, Henry Houlden, Alistair T. Pagnamenta, Kay Metcalfe, Adam Jackson, Siddharth Banka, Lenika De Simone, Abigail Schwaede, Nancy Kuntz, Timothy Blake Palculict, Safdar Abbas, Muhammad Umair, Mohammed AlMuhaizea, Dilek Colak, Hanan AlQudairy, Maysoon Alsagob, Catarina Pereira, Roberta Trunzo, Vasiliki Karageorgou, Aida M. Bertoli-Avella, Peter Bauer, Arjan Bouman, Lies H. Hoefsloot, Tjakko J. van Ham, Mahmoud Issa, Maha S. Zaki, Joseph G. Gleeson, Rob Willemsen, Namik Kaya, Stefan T. Arold, Reza Maroofian, Leslie E. Sanderson, Tahsin Stefan Barakat

Publikováno v: AMFR consortium, Deng, R, Medico-Salsench, E, Nikoncuk, A, Ramakrishnan, R, Lanko, K, Kühn, N A, van der Linde, H C, Lor-Zade, S, Albuainain, F, Shi, Y, Yousefi, S, Capo, I, van den Herik, E M, van Slegtenhorst, M, van Minkelen, R, Geeven, G, Mulder, M T, Ruijter, G J G, Lütjohann, D, Jacobs, E H, Houlden, H, Pagnamenta, A T, Metcalfe, K, Jackson, A, Banka, S, De Simone, L, Schwaede, A, Kuntz, N, Palculict, T B, Abbas, S, Umair, M, AlMuhaizea, M, Colak, D, AlQudairy, H, Alsagob, M, Pereira, C, Trunzo, R, Karageorgou, V, Bertoli-Avella, A M, Bauer, P, Bouman, A, Hoefsloot, L H, van Ham, T J, Issa, M, Zaki, M S, Gleeson, J G, Willemsen, R, Kaya, N, Arold, S T & Maroofian, R 2023, ' AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model ', Acta Neuropathologica, vol. 146, no. 2, pp. 353-368 . https://doi.org/10.1007/s00401-023-02579-9
Acta Neuropathologica. Springer-Verlag

Hereditary spastic paraplegias (HSP) are rare, inherited neurodegenerative or neurodevelopmental disorders that mainly present with lower limb spasticity and muscle weakness due to motor neuron dysfunction. Whole genome sequencing identified bi-allel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1fc78cc6dfddfc3f598c41b1aba5238
https://doi.org/10.1007/s00401-023-02579-9

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