Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Elena-Raluca Nicoli"'
Autor:
Maria L. Allende, Y. Terry Lee, Colleen Byrnes, Cuiling Li, Galina Tuymetova, Jenna Y. Bakir, Elena-Raluca Nicoli, Virginia K. James, Jennifer S. Brodbelt, Cynthia J. Tifft, Richard L. Proia
Publikováno v:
Journal of Lipid Research, Vol 64, Iss 12, Pp 100463- (2023)
GM1 gangliosidosis is a neurodegenerative disorder caused by mutations in the GLB1 gene, which encodes lysosomal β-galactosidase. The enzyme deficiency blocks GM1 ganglioside catabolism, leading to accumulation of GM1 ganglioside and asialo-GM1 gang
Externí odkaz:
https://doaj.org/article/94f9b0fdff3447668849eed7667b5c00
Autor:
Pamela Kell, Rohini Sidhu, Mingxing Qian, Sonali Mishra, Elena-Raluca Nicoli, Precilla D'Souza, Cynthia J. Tifft, Amanda L. Gross, Heather L. Gray-Edwards, Douglas R. Martin, Miguel Sena- Esteves, Dennis J. Dietzen, Manmilan Singh, Jingqin Luo, Jean E. Schaffer, Daniel S. Ory, Xuntian Jiang
Publikováno v:
EBioMedicine, Vol 92, Iss , Pp 104627- (2023)
Summary: Background: GM1 gangliosidosis is a rare, fatal, neurodegenerative disease caused by mutations in the GLB1 gene and deficiency in β-galactosidase. Delay of symptom onset and increase in lifespan in a GM1 gangliosidosis cat model after adeno
Externí odkaz:
https://doaj.org/article/c41107db896a498c9a58d10f4784660e
Autor:
David A Smith, Elena-Raluca Nicoli, Oscar C W Chen, Alexandria Colaco, Stephan Siebel, Stephanie Newman, Dawn Shepherd, Nicole Y Farhat, Andrew E Armitage, Claire Smith, George Seligmann, Mylvaganam Jeyakumar, Alaa Abdul-Sada, Forbes D Porter, Hal Drakesmith, Frances M Platt, Nick Platt
Publikováno v:
Wellcome Open Research, Vol 7 (2023)
Background: Niemann-Pick disease type C1 (NPC1) is a neurodegenerative lysosomal storage disorder characterized by the accumulation of multiple lipids in the late endosome/lysosomal system and reduced acidic store calcium. The lysosomal system regula
Externí odkaz:
https://doaj.org/article/88e020958a694dd6970e032b17add1f9
Autor:
Chulaluk Kuptanon, Marie Morimoto, Elena-Raluca Nicoli, Joshi Stephen, David S. Yarnell, Heidi Dorward, William Owen, Suhag Parikh, Namik Yasar Ozbek, Baris Malbora, Carla Ciccone, Meral Gunay-Aygun, William A. Gahl, Wendy J. Introne, May Christine V. Malicdan
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Chediak-Higashi syndrome (CHS) is rare autosomal recessive disorder caused by bi-allelic variants in the Lysosomal Trafficking Regulator (LYST) gene. Diagnosis is established by the detection of pathogenic variants in LYST in combinatio
Externí odkaz:
https://doaj.org/article/a5b5866443d44273bd3fd32bca890596
Autor:
Adrian Lita, Artem Pliss, Andrey Kuzmin, Tomohiro Yamasaki, Lumin Zhang, Tyrone Dowdy, Christina Burks, Natalia de Val, Orieta Celiku, Victor Ruiz-Rodado, Elena-Raluca Nicoli, Michael Kruhlak, Thorkell Andresson, Sudipto Das, Chunzhang Yang, Rebecca Schmitt, Christel Herold-Mende, Mark R. Gilbert, Paras N. Prasad, Mioara Larion
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
The understanding of altered lipid metabolism by isocitrate dehydrogenase 1 (IDH1) mutations in gliomas at a compartment-specific level is limited. Here, the authors use Raman spectroscopy to monitor organelle-specific metabolic changes and report th
Externí odkaz:
https://doaj.org/article/1908125b7bca48998003ff46dab75493
Autor:
Elena-Raluca Nicoli, Ida Annunziata, Alessandra d’Azzo, Frances M. Platt, Cynthia J. Tifft, Karolina M. Stepien
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
GM1 gangliosidosis is a progressive, neurosomatic, lysosomal storage disorder caused by mutations in the GLB1 gene encoding the enzyme β-galactosidase. Absent or reduced β-galactosidase activity leads to the accumulation of β-linked galactose-cont
Externí odkaz:
https://doaj.org/article/423c31796ca64df4bc25068835d99bfd
Autor:
Niamh X Cawley, Caitlin Sojka, Antony Cougnoux, Anna T Lyons, Elena-Raluca Nicoli, Christopher A Wassif, Forbes D Porter
Publikováno v:
PLoS ONE, Vol 15, Iss 1, p e0227829 (2020)
A hallmark of Niemann-Pick disease, type C (NPC) is the progressive degeneration of Purkinje neurons in the cerebellum caused by the accumulation of free cholesterol and glycosphingolipids in the lysosome. Recent studies suggest that the state of gly
Externí odkaz:
https://doaj.org/article/71448fb668fe439394b0384a93cf282b
Autor:
Fay Probert, Victor Ruiz-Rodado, Danielle te Vruchte, Elena-Raluca Nicoli, Tim D. W. Claridge, Christopher A. Wassif, Nicole Farhat, Forbes D. Porter, Frances M. Platt, Martin Grootveld
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-12 (2017)
Abstract Niemann-Pick type C1 (NPC1) disease is a rare autosomal recessive, neurodegenerative lysosomal storage disorder, which presents with a range of clinical phenotypes and hence diagnosis remains a challenge. In view of these difficulties, the s
Externí odkaz:
https://doaj.org/article/486e2509b932488d83bb2463ee51ff9c
Publikováno v:
Wellcome Open Research, Vol 2 (2018)
Niemann-Pick disease type C (NPC) disease is a neurodegenerative lysosomal storage disease caused by mutations in the NPC1 or NPC2 genes. Liver disease is also a common feature of NPC that can present as cholestatic jaundice in the neonatal period. L
Externí odkaz:
https://doaj.org/article/7eee0331b9824953b1c899d1f60d7c3a
Publikováno v:
Wellcome Open Research, Vol 2 (2017)
In this case series, we demonstrate that Ursodeoxycholic acid (UDCA) improves liver dysfunction in Niemann-Pick type C (NPC) and may restore a suppressed cytochrome p450 system. NPC disease is a progressive neurodegenerative lysosomal storage disease
Externí odkaz:
https://doaj.org/article/fbc598971e374eafa6a45bce90c960d0