Výsledky vyhledávání - "Mari, Auranen"

Akademický článek

Lowered oxidative capacity in spinal muscular atrophy, Jokela type; comparison with mitochondrial muscle disease

Autor: Nadja Ratia, Edouard Palu, Hanna Lantto, Emil Ylikallio, Ritva Luukkonen, Anu Suomalainen, Mari Auranen, Päivi Piirilä

Publikováno v: Frontiers in Neurology, Vol 14 (2023)

IntroductionSpinal muscular atrophy, Jokela type (SMAJ) is a rare autosomal dominantly hereditary form of spinal muscular atrophy caused by a point mutation c.197G>T in CHCHD10. CHCHD10 is known to be involved in the regulation of mitochondrial funct

Externí odkaz: https://doaj.org/article/e7cdf08fadf84726b0c12e38e21565db

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Akademický článek

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

Publikováno v: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-14 (2022)

Abstract Nemaline myopathy (NM) is one of the most common non-dystrophic genetic muscle disorders. NM is often associated with mutations in the NEB gene. Even though the exact NEB-NM pathophysiological mechanisms remain unclear, histological analyses

Externí odkaz: https://doaj.org/article/e5ee5a8d011d4228bc2e2b2882c85e90

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Akademický článek

Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

Autor: Julius Rönkkö, Svetlana Molchanova, Anya Revah‐Politi, Elaine M. Pereira, Mari Auranen, Jussi Toppila, Jouni Kvist, Anastasia Ludwig, Julika Neumann, Geert Bultynck, Stéphanie Humblet‐Baron, Adrian Liston, Anders Paetau, Claudio Rivera, Matthew B. Harms, Henna Tyynismaa, Emil Ylikallio

Publikováno v: Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 1962-1972 (2020)

Abstract Objective ITPR3, encoding inositol 1,4,5‐trisphosphate receptor type 3, was previously reported as a potential candidate disease gene for Charcot‐Marie‐Tooth neuropathy. Here, we present genetic and functional evidence that ITPR3 is a

Externí odkaz: https://doaj.org/article/b677654436f5422098c6dce97f6fade5

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Akademický článek

Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy

Autor: Julius Järvilehto, Sandra Harjuhaahto, Edouard Palu, Mari Auranen, Jouni Kvist, Henrik Zetterberg, Johanna Koskivuori, Marko Lehtonen, Anna Maija Saukkonen, Manu Jokela, Emil Ylikallio, Henna Tyynismaa

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

ObjectiveTo characterize serum biomarkers in mitochondrial CHCHD10-linked spinal muscular atrophy Jokela (SMAJ) type for disease monitoring and for the understanding of pathogenic mechanisms.MethodsWe collected serum samples from a cohort of 49 patie

Externí odkaz: https://doaj.org/article/09751361605348e99fce83f29529ae93

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Akademický článek

Modified Atkins diet modifies cardiopulmonary exercise characteristics and promotes hyperventilation in healthy subjects

Autor: Nadja Ratia, Kirsi H. Pietiläinen, Mari Auranen, Lauri Saksa, Ritva Luukkonen, Anu Suomalainen, Päivi Piirilä

Publikováno v: Journal of Functional Foods, Vol 81, Iss , Pp 104459- (2021)

Background: Low-carbohydrate diets, including the modified Atkins diet (mAD), are commonly used to promote weight loss, improve exercise performance, and treat refractory epilepsy and inherited metabolism disorders. However, the effects of the high-f

Externí odkaz: https://doaj.org/article/8e6853c4a2364fc4bb64438e58416512

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Akademický článek

Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII)

Autor: Minna E. Similä, Mari Auranen, Päivi Liisa Piirilä

Publikováno v: Frontiers in Neurology, Vol 11 (2020)

Background: A deficiency of muscle phosphofructokinase (PFKM) causes a rare metabolic muscle disease, the Tarui disease (Glycogen storage disease type VII, GSD VII) characterized by exercise intolerance with myalgia due to an inability to use glucose

Externí odkaz: https://doaj.org/article/36089d8789d3498fa96bace304dc52af

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Akademický článek

Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

Publikováno v: Neurobiology of Disease, Vol 119, Iss , Pp 159-171 (2018)

Following the involvement of CHCHD10 in FrontoTemporal-Dementia-Amyotrophic Lateral Sclerosis (FTD-ALS) clinical spectrum, a founder mutation (p.Gly66Val) in the same gene was identified in Finnish families with late-onset spinal motor neuronopathy (

Externí odkaz: https://doaj.org/article/4dd012f21baf4cd2b4f522f52e36c6f3

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Akademický článek

Modified Atkins diet induces subacute selective ragged‐red‐fiber lysis in mitochondrial myopathy patients

Autor: Sofia Ahola, Mari Auranen, Pirjo Isohanni, Satu Niemisalo, Niina Urho, Jana Buzkova, Vidya Velagapudi, Nina Lundbom, Antti Hakkarainen, Tiina Muurinen, Päivi Piirilä, Kirsi H Pietiläinen, Anu Suomalainen

Publikováno v: EMBO Molecular Medicine, Vol 8, Iss 11, Pp 1234-1247 (2016)

Abstract Mitochondrial myopathy (MM) with progressive external ophthalmoplegia (PEO) is a common manifestation of mitochondrial disease in adulthood, for which there is no curative therapy. In mice with MM, ketogenic diet significantly delayed progre

Externí odkaz: https://doaj.org/article/a0ecd12a5c6544f69d9acb19eea6a1d6

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