Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Baiba Lace"'
Autor:
Baiba Lace, Eissa Faqeih, Namik Kaya, Zita Krumina, Johannes A. Mayr, Ieva Micule, Nathan Thompson Wright, Melanie T. Achleitner, Hanan AlQudairy, Sander Pajusalu, Janis Stavusis, Pawel Zayakin, Inna Inashkina
Publikováno v:
JIMD Reports, Vol 65, Iss 5, Pp 297-304 (2024)
Abstract The PTCD3 gene product (protein PTCD3 or MRPS39) forms the entry channel of the mitochondrial small ribosomal subunit and binds to single‐stranded mRNA. Here, we expand on the clinical manifestations of PTCD3 pathogenic variants by describ
Externí odkaz:
https://doaj.org/article/fecb6c9229e6477795e6b6d8dddb4df7
Autor:
Min-Yu Lan, Tsu-Kung Lin, Baiba Lace, Algirdas Utkus, Birute Burnyte, Kristina Grigalioniene, Yu-Han Lin, Inna Inashkina, Chia-Wei Liou
Publikováno v:
Cells, Vol 13, Iss 8, p 694 (2024)
Variants of mitochondrial DNA (mtDNA) have been identified as risk factors for the development of Parkinson’s disease (PD). However, the underlying pathogenetic mechanisms remain unclear. Cybrid models carrying various genotypes of mtDNA variants w
Externí odkaz:
https://doaj.org/article/cc2baf2bc8854905bc64071550759ef6
Impact of the m.13513G>A Variant on the Functions of the OXPHOS System and Cell Retrograde Signaling
Autor:
Dita Kidere, Pawel Zayakin, Diana Livcane, Marina Makrecka-Kuka, Janis Stavusis, Baiba Lace, Tsu-Kung Lin, Chia-Wei Liou, Inna Inashkina
Publikováno v:
Current Issues in Molecular Biology, Vol 45, Iss 3, Pp 1794-1809 (2023)
Mitochondria are involved in many vital functions in living cells, including the synthesis of ATP by oxidative phosphorylation (OXPHOS) and regulation of nuclear gene expression through retrograde signaling. Leigh syndrome is a heterogeneous neurolog
Externí odkaz:
https://doaj.org/article/ca40510ed1a64f3a987c6159ba2c005a
Autor:
Janis Stavusis, Ieva Micule, Ieva Grinfelde, Anna Zdanovica, Janis Pudulis, Sandra Valeina, Svetlana Sepetiene, Baiba Lace, Inna Inashkina
Publikováno v:
Medicina, Vol 60, Iss 1, p 99 (2024)
Background and Objectives: Danon disease is a multisystemic disorder associated with variants in the LAMP2 gene, mainly affecting the cardiac muscle. Here, we report a multigenerational family from Latvia with two male patients, hemizygous for a nove
Externí odkaz:
https://doaj.org/article/e476b890a8fd42ac837eabb6050b7dc7
Autor:
Marija Rozevska, Dmitrijs Rots, Linda Gailite, Ronalds Linde, Stanislavs Mironovs, Maksims Timcenko, Viktors Linovs, Dzintra Locmele, Ieva Micule, Baiba Lace, Viktorija Kenina
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
HINT1 is an ubiquitous homodimeric purine phosphoramidase belonging to the histidine-triad superfamily. In neurons, HINT1 stabilizes the interaction of different receptors and regulates the effects of their signaling disturbances. Changes in HINT1 ge
Externí odkaz:
https://doaj.org/article/e0e4c9f7982948bd9c9cfe0e52ab80f0
Autor:
Maitou Pal, Baiba Lace, Yvan Labrie, Nathalie Laflamme, Nadie Rioux, Samarth Thonta Setty, Marc‐Andre Dugas, Louise Gosselin, Arnaud Droit, Nicolas Chrestian, Serge Rivest
Publikováno v:
JIMD Reports, Vol 59, Iss 1, Pp 32-41 (2021)
Abstract Pyridoxine‐dependent epilepsy (PDE) is a relatively rare subgroup of epileptic disorders. They generally present in infancy as an early onset epileptic encephalopathy or seizures, refractory to standard treatments, with rapid and variable
Externí odkaz:
https://doaj.org/article/237f568473364ac7a8b181dd1b9f1989
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)
Abstract Background Primary microcephaly is defined as reduced occipital-frontal circumference noticeable before 36 weeks of gestation. Large amount of insults might lead to microcephaly including infections, hypoxia and genetic mutations. More than
Externí odkaz:
https://doaj.org/article/97409fec27e948fc8145a0b791aa9b66
Autor:
Ieva Micule, Baiba Lace, Nathan T. Wright, Nicolas Chrestian, Jurgis Strautmanis, Mikus Diriks, Janis Stavusis, Dita Kidere, Elfa Kleina, Anna Zdanovica, Nataly Laflamme, Nadie Rioux, Samarth Thonta Setty, Sander Pajusalu, Arnaud Droit, Monkol Lek, Serge Rivest, Inna Inashkina
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
There are recent reports of associations of variants in the HPDL gene with a hereditary neurological disease that presents with a wide spectrum of clinical severity, ranging from severe neonatal encephalopathy with no psychomotor development to adole
Externí odkaz:
https://doaj.org/article/ed11fdcacf6b4cf9a47e0f91f13b31d9
Autor:
Baiba Lace, Sander Pajusalu, Diana Livcane, Ieva Grinfelde, Ilze Akota, Ieva Mauliņa, Biruta Barkāne, Janis Stavusis, Inna Inashkina
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Craniofacial morphogenesis is highly complex, as is the anatomical region involved. Errors during this process, resulting in orofacial clefts, occur in more than 400 genetic syndromes. Some cases of cleft lip and/or palate (CLP) are caused by mutatio
Externí odkaz:
https://doaj.org/article/44c4b4a9359040f3ac9ab501a5db201d
Autor:
Nathalie Laflamme, Baiba Lace, Samarth Thonta Setty, Nadie Rioux, Yvan Labrie, Arnaud Droit, Nicolas Chrestian, Serge Rivest
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Nemaline myopathy is a rare disorder affecting the muscle sarcomere. Mutations in nebulin gene (NEB) are known to be responsible for about 50% of nemaline myopathy cases. Nebulin is a giant protein which is formed integrally with the sarcomeric thin
Externí odkaz:
https://doaj.org/article/81dce964edaf4d5cbc5e2d532c0ce39a