Katalóg evidencie publikačnej činnosti PU

ID záznamu:	95095
Kategória:	ADC
Autor:	Hamilton Eline M.C. (5%)
Autor:	Bertini Enrico (5%)
Autor:	Kalaydjieva Luba (5%)
Autor:	Morar Bharti (5%)
Autor:	Dojčáková Dana (15%)
Autor:	Liu Judy (5%)
Autor:	Vanderver Adeline (5%)
Autor:	Curiel Julian (5%)
Autor:	Persoon Claudia M. (5%)
Autor:	Diodato Daria (5%)
Autor:	Pinelli Lorenzo (5%)
Autor:	van der Meij Nathalie L. (5%)
Autor:	Plecko Barbara (5%)
Autor:	Blaser Susan (5%)
Autor:	Wolf Nicole I. (5%)
Autor:	Waisfisz Quinten (5%)
Autor:	Abbink Truus E. M. (5%)
Autor:	van der Knaap Marjo S. (5%)
Názov:	UFM1 founder mutation in the Roma population causes recessive variant of H-ABC [print, elektronický dokument]
Zdroj:	Neurology [print, elektronický dokument]
Lokácia:	Roč. 89, č. 17. - Baltimore : Wolters Kluwer, (2017), s. 1821-1828
ISSN:	0028-3878. - ISSN 1526-632X
Ohlas:	[1] 2022. YEPEZ, V.A., GUSIC, M., KOPAJTICH, R. et al. Clinical implementation of RNA sequencing for Mendelian disease diagnostics. In Genome medicine, ISSN 1756-994X. 2022, vol. 14, no. 1, art. no. 38. WOS:000778002100001; SCOPUS.
Ohlas:	[1] 2021. SZUCS, Y., FITALA, R., NYUZO, A.R. et al. Four new cases of hypomyelinating leukodystrophy associated with the UFM1 c.-155_-153delTCA founder mutation in pediatric patients of Roma descent in Hungary. In Genes [online], ISSN 2073-4425. 2021 [cit. 2022-06-23], vol. 12, no. 9, art. no. 1331. WOS:000699794600001; SCOPUS. Dostupný na internete <https://www.mdpi.com/2073-4425/12/9/1331/htm>
Ohlas:	[1] 2021. AL-SAADY, M.L., KAISER, Ch.S., WAKASUQUI, F. et al. Homozygous UBA5 variant leads to hypomyelination with thalamic involvement and axonal neuropathy. In Neuropediatrics, ISSN 0174-304X. 2021, vol. 52, no. 6, s. 489-494. WOS:000640005900002; SCOPUS.
Ohlas:	[1] 2021. BERGANT, G., MAVER, A., PETERLIN, B. Whole-genome sequencing in diagnostics of selected Slovenian undiagnosed patients with rare disorders. In Life [online], ISSN 2075-1729. 2021 [cit. 22-06-23], vol. 11, no. 3, art. no. 205. WOS:000633813600001; SCOPUS. Dostupný na internete <https://www.mdpi.com/2075-1729/11/3/205/htm>
Ohlas:	[1] 2021. WITTING, K.F., MULDER, M.P.C. Highly specialized ubiquitin-like modifications: shedding light into the UFM1 enigma. In Biomolecules [online], ISSN 2218-273X. 2021 [cit. 2022-06-23], vol. 11, no. 2, art. no. 255. WOS:000622107400001; SCOPUS. Dostupný na internete <https://www.mdpi.com/2218-273X/11/2/255/htm>
Ohlas:	[1] 2021. NI, M., AFROZE, B., XING, Ch. et al. A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy. In Genetics in medicine, ISSN 1098-3600. 2021, vol. 28, no. 5, s. 900-908. WOS:000609405900003; SCOPUS.
Ohlas:	[1] 2021. FENG, R., WANG, J., LUO, G. et al. Dcf1 deficiency induces hypomyelination by activating Wnt signaling. In Experimental neurology, ISSN 0014-4886. 2021, vol. 335, art. no. 113486. WOS:000600689300003; SCOPUS.
Ohlas:	[1] 2021. WOLF, N.I., FFRENCH-CONSTANT, Ch., VAN DER KNAAP, M.S. Hypomyelinating leukodystrophies – unravelling myelin biology. In Nature reviews neurology, ISSN 1759-4758. 2021, vol. 17, no. 2, s. 88-103. WOS:000599118600001; SCOPUS.
Ohlas:	[1] 2020. FORD, Dianne. Ribosomal heterogeneity – A new inroad for pharmacological innovation. In Biochemical pharmacology, ISSN 0006-2952. 2020, vol. 175, art. no. 175. WOS:000527350300018; SCOPUS.
Ohlas:	[1] 2020. HU, X.L., ZHANG, H., SONG, Y. et al. Ubiquitin fold modifier 1 activates NF-kappa B pathway by down-regulating LZAP expression in the macrophage of diabetic mouse model. In Bioscience reports, ISSN 0144-8463. 2020, vol. 40, no. 1, art. no. BSR20191672. WOS:000507511700001; SCOPUS.
Ohlas:	[1] 2020. SARRET, C. Leukodystrophies and genetic leukoencephalopathies in children. In Revue neurologique, ISSN 0035-3787. 2020, vol. 173, no. 1-2, s. 10-19. WOS:000514823500003; SCOPUS.
Ohlas:	[1] 2020. YU, L., LI, G., DENG, J. et al. The UFM1 cascade times mitosis entry associated with microcephaly. In FASEB journal, ISSN 0892-6638. 2020, vol. 34, no. 1, s. 1319-1330. WOS:000507308900088; SCOPUS.
Ohlas:	[1] 2020. MENDES, M., GREEN, L.M.C., BERTINI, E. et al. RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum. In Annals of clinical and translational neurology, ISSN 2328-9503. 2020, vol. 7, no. 1, s. 83-93. WOS:000501183300001; SCOPUS.
Ohlas:	[1] 2019. GERAKIS, Y., QUINTERO, M., LI, H. The UFMylation system in proteostasis and beyond. In Terends in cell biology, ISSN 0962-8924. 2019, vol. 29, no. 12, s. 974-986. WOS:000497668700005; SCOPUS.
Ohlas:	[1] 2019. VAN DER KNAAP, M.S., SCHIFFMANN, R., MOCHEL, F. et al. Diagnosis, prognosis, and treatment of leukodystrophies. In Lancet neurology, ISSN 1474-4422. 2019, vol. 18, no. 10, s. 962-972. WOS:000485784000021; SCOPUS.
Ohlas:	[1] 2019. FANG, Z., PAN, Z.Z. Essential role of ubiquitin-fold modifier 1 conjugation in DNA damage respons. In DNA and cell biology, ISSN 1044-5498. 2019, vol. 38, no. 10, s. 1030-1039. WOS:000479857900001; SCOPUS.
Ohlas:	[1] 2019. WALCZAK, Ch. P., LETO, D.E., ZHANG, L. et al. Ribosomal protein RPL26 is the principal target of UFMylation. In Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424. 2019, vol. 116, no. 4, s. 1299-1308. WOS:000456336100035; SCOPUS.
Ohlas:	[1] 2018. NAHORSKI, M.S., MADDIREVULA, S., ISHIMURA, R. et al. Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. In Brain, ISSN 0006-8950. 2018, vol. 141, no. 7, s. 1934-1945. WOS:000438288100015; SCOPUS.
Ohlas:	[1] 2018. GONCALVES, F.G., FREDDI, T., TARANATH, A. et al. Tubulinopathies. In Topics in magnetic resonance imaging, ISSN 0899-3459. 2018, vol. 27, no. 6, s. 395-408. SCOPUS.
Ohlas:	[1] 2022. YOO, H.M., PARK, J.H., KIM, J.Y. et al. Modification of ERα by UFM1 increases its stability and transactivity for breast cancer development. In Molecules and cells, ISSN 1016-8478. 2022, roč. 45, č. 6, s. 425-434. SCOPUS.
Ohlas:	[1] 2022. JING, Y., MAO, Z., CHEN, F. et al. UFMylation system: an emerging player in tumorigenesis. In Cancers, ISSN 2072-6694. 2022, roč. 14, č. 14, art. no. 3501. SCOPUS;WOS:000831761600001.
Ohlas:	[1] 2022. ZHANG, J., ZHU, H.B., LIU, S.Y. et al. Deficiency of murine UFM1-specific E3 ligase causes microcephaly and inflammation. In Molecular neurobiology, ISSN 0893-7648. 2022, roč. 59, č. 10, s. 6363-6372. SCOPUS.
Ohlas:	[1] 2022. ISHIMURA, R., EL-GOWILY, A.H., NOSHIRO, D. et al. The UFM1 system regulates ER-phagy through the ufmylation of CYB5R3. In Nature communications, ISSN 2041-1723. 2022, roč. 13, č. 1, art. no. 7857. SCOPUS.
Ohlas:	[1] 2022. ÜNALP, A., KÖSE, M., KARAOGLU, P. et al. A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy. In Turkish journal of pediatrics, ISSN 0041-4301. 2022, roč. 64, č. 4, s. 747-753. WOS:000865583700015; SCOPUS.
Ohlas:	[1] 2023. IVANOV, I., PACHEVA, I., YORDANOVA, R. et al. Hypomyelination with atrophy of basal Ganglia and Cerebellum (H-ABC) due to UFM1 mutation in Roma patients-severe early encephalopathy with stridor and severe hearing and visual impairment. a single center experience. In CNS & neurological disorders-drug targets, ISSN 1871-5273. 2023, roč. 22, č. 2, s. 207-214. WOS:000933684800007; SCOPUS.
Ohlas:	[1] 2023. SERRANO, R.J., OORSCHOT, V., PALIPANA, D. et al. Genetic model of UBA5 deficiency highlights the involvement of both peripheral and central nervous systems and identifies widespread mitochondrial abnormalities. In Brain communications [online], ISSN 2632-1297. 2023 [cit. 2024-05-16], roč. 5, č. 6, art no. fcad317. WOS:001126899900004; SCOPUS. Dostupný na internete <https://academic.oup.com/braincomms/article/5/6/fcad317/7433257?login=true>
Ohlas:	[1] 2023. YANG, S., MOY, N., YANG, R. The UFM1 conjugation system in mammalian development. In Developmental dynamics, ISSN 1058-8388. 2023, roč. 252, č. 7, s. 976-985. WOS:000956855800001; SCOPUS.
Ohlas:	[1] 2023. ISHIMURA, R., ITO, S., MAO, G. et al. Mechanistic insights into the roles of the UFM1 E3 ligase complex in ufmylation and ribosome-associated protein quality control. In Science advances, ISSN 2375-2548. 2023, roč. 9, č. 33, art no. eadh3635. WOS:001050899400012; SCOPUS.
Ohlas:	[1] 2023. SANO, K., MIYA, F., KATO, M. et al. Neurochemistry evaluated by magnetic resonance spectroscopy in a patient with FBXO28-related developmental and epileptic encephalopathy. In Brain & development, ISSN 0387-7604. 2023, roč. 45, č. 10, s. 583-587. WOS:001106196000001; SCOPUS.
Ohlas:	[1] 2024. ZHOU, X., MAHDIZADEH, S.J., LE GALLO, M. et al. UFMylation: a ubiquitin-like modification. In Trends in biochemical sciences, ISSN 0968-0004. 2024, roč. 49, č. 1, s. 52-67. WOS:001154268200001; SCOPUS.
Ohlas:	[1] 2024. KOMATSU, M., INADA, T., NODA, N.N. The UFM1 system: working principles, cellular functions, and pathophysiology. In Molecular cell, ISSN 1097-2765. 2024, roč. 84, č. 1, s. 156-169. WOS:001154345400001; SCOPUS.
Oblasť výskumu:	130