Výsledky vyhledávání - "Natalia Mendoza-Ferreira"

Akademický článek

PLS3 Overexpression Delays Ataxia in Chp1 Mutant Mice

Autor: Eva Janzen, Lisa Wolff, Natalia Mendoza-Ferreira, Kristina Hupperich, Andrea Delle Vedove, Seyyedmohsen Hosseinibarkooie, Min Jeong Kye, Brunhilde Wirth

Publikováno v: Frontiers in Neuroscience, Vol 13 (2019)

Many neurodegenerative disorders share common pathogenic pathways such as endocytic defects, Ca2+ misregulation and defects in actin dynamics. Factors acting on these shared pathways are highly interesting as a therapeutic target. Plastin 3 (PLS3), a

Externí odkaz: https://doaj.org/article/65c3660dc28c4f03babf89ef4c4949db

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Akademický článek

Neurocalcin Delta Knockout Impairs Adult Neurogenesis Whereas Half Reduction Is Not Pathological

Autor: Aaradhita Upadhyay, Seyyedmohsen Hosseinibarkooie, Svenja Schneider, Anna Kaczmarek, Laura Torres-Benito, Natalia Mendoza-Ferreira, Melina Overhoff, Roman Rombo, Vanessa Grysko, Min Jeong Kye, Natalia L. Kononenko, Brunhilde Wirth

Publikováno v: Frontiers in Molecular Neuroscience, Vol 12 (2019)

Neurocalcin delta (NCALD) is a brain-enriched neuronal calcium sensor and its reduction acts protective against spinal muscular atrophy (SMA). However, the physiological function of NCALD and implications of NCALD reduction are still elusive. Here, w

Externí odkaz: https://doaj.org/article/35272ecbff7c41e6b8cfd4fe658f58e1

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TGS1 impacts snRNA 3′-end processing, ameliorates survival motor neuron-dependent neurological phenotypes in vivo and prevents neurodegeneration

Publikováno v: Nucleic Acids Research. 50:12400-12424

Trimethylguanosine synthase 1 (TGS1) is a highly conserved enzyme that converts the 5′-monomethylguanosine cap of small nuclear RNAs (snRNAs) to a trimethylguanosine cap. Here, we show that loss of TGS1 in Caenorhabditis elegans, Drosophila melanog

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a2f84921eec82dd4a2497d79c655c61
https://doi.org/10.1093/nar/gkac659

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Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism

Autor: Natalie Keller, Reza Boostani, Brunhilde Wirth, Ehsan Ghayoor Karimiani, Natalia Mendoza-Ferreira, Henry Houlden, Mert Karakaya, Reza Maroofian, Viorica Chelban, Paria Najarzadeh Torbati, Youssef Khalil, Philippa B. Mills, Holger Thiele

Publikováno v: Neuromuscular Disorders. 30:583-589

PDXK encodes for a pyridoxal kinase, which converts inactive B6 vitamers to the active cofactor pyridoxal 5'-phosphate (PLP). Recently, biallelic pathogenic variants in PDXK were shown to cause axonal Charcot-Marie-Tooth disease with optic atrophy th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e2edb5749ee681df9fe2ccad01279de
https://doi.org/10.1016/j.nmd.2020.04.004

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De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation

Publikováno v: American Journal of Human Genetics
The American Journal of Human Genetics
The American journal of human genetics

Distal hereditary motor neuropathies (HMNs) and axonal Charcot-Marie-Tooth neuropathy (CMT2) are clinically and genetically heterogeneous diseases characterized primarily by motor neuron degeneration and distal weakness. The genetic cause for about h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9722c2cbea52ddf7ec284f892244c043
http://europepmc.org/articles/PMC7491385

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Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next

Autor: Mert Karakaya, Natalia Mendoza-Ferreira, Min Jeong Kye, Brunhilde Wirth

Publikováno v: Annual review of genomics and human genetics. 21

Twenty-five years ago, the underlying genetic cause for one of the most common and devastating inherited diseases in humans, spinal muscular atrophy (SMA), was identified. Homozygous deletions or, rarely, subtle mutations of SMN1 cause SMA, and the c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54f46567e0738712d1ae84571730e218
https://pubmed.ncbi.nlm.nih.gov/32004094

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TGS1 controls snRNA 3' end processing, prevents neurodegeneration and amelioratesSMN-dependent neurological phenotypes in vivo

Publikováno v: bioRxiv the preprint server for biology (2020). doi:10.1101/2020.10.27.356782
info:cnr-pdr/source/autori:Lu Chen123*, Caitlin M. Roake123*, Paolo Maccallini4, Francesca Bavasso4, Roozbeh Dehghannasiri3, Pamela Santonicola5, Natalia Mendoza-Ferreira6, Livia Scatolini4, Ludovico Rizzuti4, Alessandro Esposito7, Ivan Gallotta7, Sofia Francia89, Stefano Cacchione4, Matthias Hammerschmidt10, Cristiano De Pittà11, Gabriele Sales11, Julia Salzman13, Livio Pellizzoni121314, Brunhilde Wirth615, Elia Di Schiavi57, Maurizio Gatti416, Steven E. Artandi123# and Grazia D. Raffa417#/titolo:TGS1 controls snRNA 3' end processing, prevents neurodegeneration and amelioratesSMN-dependent neurological phenotypes in vivo/doi:10.1101%2F2020.10.27.356782/rivista:bioRxiv the preprint server for biology/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume

Trimethylguanosine synthase 1 (TGS1) is a highly conserved enzyme that converts the 5’ mono-methylguanosine cap of snRNAs to a trimethylguanosine cap. Here, we show that loss of TGS1 in C. elegans, D. melanogaster and D. rerio results in neurologic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f54fc9aa1ec0818fd097fcf7d36a9bf

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Plastin 3 influences bone homeostasis through regulation of osteoclast activity

Autor: Seyyedmohsen Hosseinibarkooie, Frank Zaucke, Brunhilde Wirth, Theresa Tschanz, Anja Niehoff, Miriam Peters, Vanessa Grysko, Irmgard Hölker, Janine Neugebauer, Natalia Mendoza-Ferreira, Franziska Nolte, Juliane Heilig, Kristina Hupperich, Bryony C Ross

Publikováno v: Human molecular genetics. 27(24)

Over 200 million people suffer from osteoporosis worldwide, one third of which will develop osteoporotic bone fractures. Unfortunately, no effective cure exists. Mutations in plastin 3 (PLS3), an F-actin binding and bundling protein, cause X-linked p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e776a06525b0373c13eb588d8e94cd71
https://pubmed.ncbi.nlm.nih.gov/30204862

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CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis

Autor: Seyyedmohsen Hosseinibarkooie, Markus Riessland, Laura Torres-Benito, Natalia Mendoza-Ferreira, Eva Janzen, Svenja Schneider, Frank Rigo, Kristina Hupperich, Min Jeong Kye, Vanessa Grysko, Matthias Hammerschmidt, Brunhilde Wirth, Theresa Tschanz, C. Frank Bennett

Publikováno v: Brain

Plastin3 is a protective modifier of spinal muscular atrophy (SMA). Janzen et al. report that CHP1 interacts directly with plastin3, and that CHP1 suppression reduces SMA pathology in cellular and animal models by restoring impaired endocytosis. CHP1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1728b8f988d42bd4b09fbaee70a6664
https://pubmed.ncbi.nlm.nih.gov/29961886

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Spinal Muscular Atrophy Disease Modifiers

Autor: Laura Torres-Benito, Natalia Mendoza-Ferreira, Brunhilde Wirth

The spinal muscular atrophy (SMA) disease severity is mainly determined by the number of survival motor neuron 2 ( SMN2 ) copies. This association is, however, not strict and can be influenced by various factors, which act in an SMN-dependent or SMN-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6104eb0845bbace7e6dedd8544926e87
https://doi.org/10.1016/b978-0-12-803685-3.00012-4

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