Zobrazeno 1 - 10
of 425
pro vyhledávání: '"S. Eichler"'
Publikováno v:
Neurotherapeutics, Vol 21, Iss 4, Pp e00453- (2024)
Externí odkaz:
https://doaj.org/article/019403bd23ff478baf7e2ab1310eac60
Autor:
Amanda Nagy, Francine Molay, Sarah Hargadon, Claudia Brito Pires, Natalie Grant, Lizbeth De La Rosa Abreu, Jin Yun Chen, Precilla D’Souza, Ellen Macnamara, Cynthia Tifft, Catherine Becker, Claudio Melo De Gusmao, Vikram Khurana, Ann M. Neumeyer, Florian S. Eichler
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background TBL1XR1 encodes a F-box-like/WD40 repeat-containing protein that plays a role in transcription mediated by nuclear receptors and is a known genetic cause of neurodevelopmental disease of childhood (OMIM# 608628). Yet the developme
Externí odkaz:
https://doaj.org/article/4ba11c6a7859415d8de1eacad509303b
Autor:
Neha P. Godbole, Elizabeth Haxton, Olivia E. Rowe, Joseph J. Locascio, Jeremy D. Schmahmann, Florian S. Eichler, Eva‐Maria Ratai, Christopher D. Stephen
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 1, Pp 207-224 (2024)
Abstract Objective Late‐onset GM2 gangliosidosis (LOGG) subtypes late‐onset Tay‐Sachs (LOTS) and Sandhoff disease (LOSD) are ultra‐rare neurodegenerative lysosomal storage disorders presenting with weakness, ataxia, and neuropsychiatric sympt
Externí odkaz:
https://doaj.org/article/f9c564ae46ce402cb82ebfacbdeb3e85
Autor:
Arne Lauer, Samantha L. Speroni, Myoung Choi, Xiao Da, Christine Duncan, Siobhan McCarthy, Vijai Krishnan, Cole A. Lusk, David Rohde, Mikkel Bo Hansen, Jayashree Kalpathy-Cramer, Daniel J. Loes, Paul A. Caruso, David A. Williams, Kim Mouridsen, Kyrre E. Emblem, Florian S. Eichler, Patricia L. Musolino
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-10 (2023)
Cerebral adrenoleukodystrophy (CALD) is a demyelinating disease caused by loss of ABCD1 gene function. Here the authors investigate white matter structural and microvascular changes in boys with CALD that received gene therapy with autologous hematop
Externí odkaz:
https://doaj.org/article/c0a97af8a8f34cc59471173dc81e801b
Autor:
Bruna Caprioli, Rosangela A. S. Eichler, Renée N. O. Silva, Luiz Felipe Martucci, Patricia Reckziegel, Emer S. Ferro
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 20, p 15190 (2023)
Neurolysin oligopeptidase (E.C.3.4.24.16; Nln), a member of the zinc metallopeptidase M3 family, was first identified in rat brain synaptic membranes hydrolyzing neurotensin at the Pro-Tyr peptide bond. The previous development of C57BL6/N mice with
Externí odkaz:
https://doaj.org/article/f31c80f4071b49eb8a49f0b6d63bda1e
Autor:
Annette Bley, Jonas Denecke, Alfried Kohlschütter, Gerhard Schön, Sandra Hischke, Philipp Guder, Tatjana Bierhals, Heather Lau, Maja Hempel, Florian S. Eichler
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Canavan disease (CD, MIM # 271900) is a rare and devastating leukodystrophy of early childhood. To identify clinical features that could serve as endpoints for treatment trials, the clinical course of CD was studied retrospectivel
Externí odkaz:
https://doaj.org/article/7ea4e47f260149a7a09b4ed435e9162e
Autor:
Camille S. Corre, Natalie Grant, Reza Sadjadi, Douglas Hayden, Catherine Becker, Pablo Gomery, Florian S. Eichler
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Abstract Objective To characterize the prevalence, onset, and burden of urinary and bowel dysfunction in adult patients with adrenoleukodystrophy (ALD) and to evaluate any sex differences in symptom presentation. Methods In this retrospective and pro
Externí odkaz:
https://doaj.org/article/5a87cb35575a49018e327872b9c1c06e
Autor:
Neha P. Godbole, Reza Sadjadi, Madeline A. DeBono, Natalie R. Grant, Daniel C. Kelly, Peter F. James, Christopher D. Stephen, M. David Balkwill, Richard F. Lewis, Florian S. Eichler
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: Gait and balance difficulties are among the most common clinical manifestations in adults with X-linked adrenoleukodystrophy, but little is known about the contributions of sensory loss, motor dysfunction, and postural control to gait dys
Externí odkaz:
https://doaj.org/article/939e7b4b2fb6403b8811578fe3a30268
Autor:
Carolina A. Parada, Ivan Pires de Oliveira, Mayara C. F. Gewehr, João Agostinho Machado-Neto, Keli Lima, Rosangela A. S. Eichler, Lucia R. Lopes, Luiz R. G. Bechara, Julio C. B. Ferreira, William T. Festuccia, Luciano Censoni, Ivarne Luis S. Tersariol, Emer S. Ferro
Publikováno v:
Cells, Vol 11, Iss 3, p 385 (2022)
Intracellular peptides (InPeps) generated by proteasomes were previously suggested as putative natural regulators of protein–protein interactions (PPI). Here, the main aim was to investigate the intracellular effects of intracellular peptide VFDVEL
Externí odkaz:
https://doaj.org/article/0af4787aeba54bdd8849adf74bbaf058
Autor:
Renée N. O. Silva, Ricardo P. Llanos, Rosangela A. S. Eichler, Thiago B. Oliveira, Fábio C. Gozzo, William T. Festuccia, Emer S. Ferro
Publikováno v:
Pharmaceutics, Vol 13, Iss 12, p 2175 (2021)
Intracellular peptides were shown to derive from proteasomal degradation of proteins from mammalian and yeast cells, being suggested to play distinctive roles both inside and outside these cells. Here, the role of intracellular peptides previously id
Externí odkaz:
https://doaj.org/article/3234f191a26e40bbaeb3578faa9cb4f3