Zobrazeno 1 - 10
of 500
pro vyhledávání: '"Riikka H."'
Autor:
Shekhar Singh, Lidiia Plotnikova, Kalle Karvonen, Sanna Ryytty, Jelena Hyppönen, Reetta Kälviäinen, Riikka H. Hämäläinen
Publikováno v:
Stem Cell Research, Vol 73, Iss , Pp 103248- (2023)
Progressive myoclonic epilepsy type 1 (EPM1) is an autosomal recessive disorder caused by mutations in the cystatin B gene (CSTB). Affected individual’s manifest stimulus-sensitive and action myoclonus and tonic-clonic epileptic seizures. In this s
Externí odkaz:
https://doaj.org/article/4e19838ee1754601bc7e66668db15b2c
Autor:
Shekhar Singh, Riikka H. Hämäläinen
Publikováno v:
Cells, Vol 13, Iss 2, p 170 (2024)
Progressive myoclonic epilepsy type 1 (EPM1) is an autosomal recessive disorder, also known as Unverricht–Lundborg disease (ULD). EPM1 patients suffer from photo-sensitive seizures, stimulus-sensitive myoclonus, nocturnal myoclonic seizures, ataxia
Externí odkaz:
https://doaj.org/article/f0040bcc2ab141c2a8ab4e49250b0ce0
Autor:
Nikita Mikhailov, Anaïs Virenque, Kseniia Koroleva, Elisa Eme-Scolan, Matei Teleman, Ali Abdollahzadeh, Raisa Giniatullina, Oleg Gafurov, Georgii Krivoshein, Tarja Malm, Riikka H. Hämäläinen, Alejandra Sierra, Jussi Tohka, Rejane Rua, Francesco M. Noe, Rashid Giniatullin
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
Abstract A system of lymphatic vessels has been recently characterized in the meninges, with a postulated role in ‘cleaning’ the brain via cerebral fluid drainage. As meninges are the origin site of migraine pain, we hypothesized that malfunction
Externí odkaz:
https://doaj.org/article/613a7cfcc49742c485b8f4d089339b8c
Autor:
Sanna Ryytty, Riikka H. Hämäläinen
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 17, p 13478 (2023)
The m.3243A>G mutation in the tRNA Leu(UUR) gene (MT-TL1) is one of the most common pathogenic point mutations in human mtDNA. Patient symptoms vary widely and the severity of the disease ranges from asymptomatic to lethal. The reason for the high he
Externí odkaz:
https://doaj.org/article/47d53e4c4608469d8a33dc1608fcdc5d
Autor:
Riikka Lampinen, Irina Belaya, Liudmila Saveleva, Jeffrey R. Liddell, Dzhessi Rait, Mikko T. Huuskonen, Raisa Giniatullina, Annika Sorvari, Liisi Soppela, Nikita Mikhailov, Isabella Boccuni, Rashid Giniatullin, Marcela Cruz-Haces, Julia Konovalova, Marja Koskuvi, Andrii Domanskyi, Riikka H. Hämäläinen, Gundars Goldsteins, Jari Koistinaho, Tarja Malm, Sweelin Chew, Kirsi Rilla, Anthony R. White, Nicholas Marsh-Armstrong, Katja M. Kanninen
Publikováno v:
Neurobiology of Disease, Vol 170, Iss , Pp 105753- (2022)
Under physiological conditions in vivo astrocytes internalize and degrade neuronal mitochondria in a process called transmitophagy. Mitophagy is widely reported to be impaired in neurodegeneration but it is unknown whether and how transmitophagy is a
Externí odkaz:
https://doaj.org/article/90b3b33e12fd4d749b99c1ac7e4e3bbb
Autor:
Tuuli-Maria Sonninen, Riikka H. Hämäläinen, Marja Koskuvi, Minna Oksanen, Anastasia Shakirzyanova, Sara Wojciechowski, Katja Puttonen, Nikolay Naumenko, Gundars Goldsteins, Nihay Laham-Karam, Marko Lehtonen, Pasi Tavi, Jari Koistinaho, Šárka Lehtonen
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-14 (2020)
Abstract In Parkinson`s disease (PD), the loss of dopaminergic (DA) neurons in the substantia nigra pars compacta is associated with Lewy bodies arising from the accumulation of alpha-synuclein protein which leads ultimately to movement impairment. W
Externí odkaz:
https://doaj.org/article/fcb1196617224db18b53e46c1fc7df9b
Autor:
Sanna Ryytty, Shalem R. Modi, Nikolay Naumenko, Anastasia Shakirzyanova, Muhammad Obaidur Rahman, Miia Vaara, Anu Suomalainen, Pasi Tavi, Riikka H. Hämäläinen
Publikováno v:
Cells, Vol 11, Iss 16, p 2593 (2022)
The m.3243A>G mutation in mitochondrial tRNA-Leu(UUR) is one of the most common pathogenic mitochondrial DNA mutations in humans. The clinical manifestations are highly heterogenous and the causes for the drastic clinical variability are unknown. App
Externí odkaz:
https://doaj.org/article/9e9bcaf147e34cffa4370d05c81769e9
Autor:
Taisia Rolova, Ying-Chieh Wu, Marja Koskuvi, Jenni Voutilainen, Tuuli-Maria Sonninen, Johanna Kuusisto, Markku Laakso, Riikka H. Hämäläinen, Jari Koistinaho, Šárka Lehtonen
Publikováno v:
Stem Cell Research, Vol 48, Iss , Pp 101968- (2020)
A673T mutation in the amyloid precursor protein (APP) is a rare variant associated with a reduced risk of late-onset Alzheimer‘s disease (AD) and age-related cognitive decline. The A673T mutation decreases beta-amyloid (Aβ) production and aggregat
Externí odkaz:
https://doaj.org/article/c32ee305c959417fb0b382031e1c9e2e
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 3, p 1370 (2022)
Mechanosensitive ion channels, Piezo1 and 2, are activated by pressure and involved in diverse physiological functions, including senses of touch and pain, proprioception and many more. Understanding their function is important for elucidating the me
Externí odkaz:
https://doaj.org/article/461414ccfa404c2cbda70911dbb6c21d
Autor:
Minna Oksanen, Ida Hyötyläinen, Jenni Voutilainen, Katja A. Puttonen, Riikka H. Hämäläinen, Caroline Graff, Šárka Lehtonen, Jari Koistinaho
Publikováno v:
Stem Cell Research, Vol 31, Iss , Pp 181-185 (2018)
A double mutation (KM670/671NL) in amyloid precursor protein gene (APP) is causative for familial Alzheimer's disease and has been shown to increase the total Aβ burden. Here we report the generation and characterization of an iPSC line from a fAD p
Externí odkaz:
https://doaj.org/article/89ae69ef055341379079aeadd3d35867