Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

Autor: Jessica L. Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy D. Harper, Julie R. Jones, Benjamin Kamien, Kristin Kernohan, Mary Kay Koenig, Matthew Lines, Elizabeth Emma Palmer, Randal Richardson, Reeval Segel, Mark Tarnopolsky, Jason R. Vanstone, Melissa Gibbons, Abigail Collins, Brent L. Fogel, Care4Rare Canada Consortium, Tracy Dudding-Byth, Kym M. Boycott

Publikováno v: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)

Abstract Background Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals exhibit cerebellar dys

Externí odkaz: https://doaj.org/article/6eab3bb9f75d4cc9bb50e592a22f156a

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature

Autor: Rebecca C. Spillmann, Nissan V. Baratang, Kym M. Boycott, Karen W. Gripp, Taila Hartley, Anik St-Denis, Philippe M. Campeau, Kristin D. Kernohan, Erik A. Eklund, Jessica L. Zambonin, Loren D M Pena, Michael T. Geraghty, Andrew C. Edmondson, Jacek Majewski, Hugh J. McMillan, Allan Bayat, Miao He, Manuela Pendziwiat, Eric Bareke, Andrea Guerin, Thi Tuyet Mai Nguyen, Julie Richer, Devon L. Johnstone, Hilde M. H. Braakman

Publikováno v: Johnstone, D L, Nguyen, T T M, Zambonin, J, Kernohan, K D, St-Denis, A, Baratang, N V, Hartley, T, Geraghty, M T, Richer, J, Majewski, J, Bareke, E, Guerin, A, Pendziwiat, M, Pena, L D M, Braakman, H M H, Grip, K W, Edmondson, A C, He, M, Spillmann, R C, Eklund, E A, Bayat, A, Network, U D, McMillan, H J, Boycott, K M, Campeau, P M & Care4Rare Canada Consortium 2020, ' Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature ', Journal of Inherited Metabolic Disease, vol. 43, no. 6, pp. 1321-1332 . https://doi.org/10.1002/jimd.12278
Journal of Inherited Metabolic Disease

We investigated seven children from six families to expand the phenotypic spectrum associated with an early infantile epileptic encephalopathy caused by biallelic pathogenic variants in the phosphatidylinositol glycan anchor biosynthesis class Q (PIG

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d6d8500b9fbd648f12c1288d7960cc1
https://doi.org/10.1002/jimd.12278

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Autor: Brendan J. Battersby, Julie Richer, Leigh A M Demain, William G. Newman, Inna A. Belyantseva, Meredith K. Gillespie, Stephanie Oerum, Jill E. Urquhart, Thomas B. Friedman, James O'Sullivan, Alessandro Rea, Agatha Schlüter, Simon G. Williams, Hugh J. McMillan, Kevin J. Munro, Albert Amberger, Waheeda Pagarkar, Melanie Barzik, Kyle Thompson, Walter Rossmanith, Agustí Rodríguez-Palmero, Irit Hochberg, Sanjeev S. Bhaskar, Reeya Motha, Raymond T. O'Keefe, Zeev Blumenfeld, Pilar Quijada-Fraile, Edgard Verdura, Wyatt W. Yue, Johannes Zschocke, Sandra Demetz, Andrea J. Deutschmann, Aurora Pujol, Jessica L. Zambonin, Glenda M. Beaman, Isabella R. Lawrence, Kah Ying Ng, Sergey Yalonetsky, Emma M. Jenkinson, Robert W. Taylor

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Hochberg, I, Demain, L, Richer, J, Thompson, K, Urquhart, J, Rea, A, Pagarkar, W, Rodriguez-Palmero, A, Beaman, G, O'Sullivan, J, Williams, S, Bhaskar, S, O'Keefe, R, Newman, W & Munro, K 2021, ' Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations ', American Journal of Human Genetics, vol. 108, no. 11, pp. 2195-2204 . https://doi.org/10.1016/j.ajhg.2021.10.002
American Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname

Human mitochondrial RNase P (mt-RNase P) is responsible for 5' end processing of mitochondrial precursor tRNAs, a vital step in mitochondrial RNA maturation, and is comprised of three protein subunits: TRMT10C, SDR5C1 (HSD10), and PRORP. Pathogenic v

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::241fe6274c9c1aa9800aa3fa346a2bb1
https://ddd.uab.cat/record/250495

EFFECT OF 9-HYDROXY-STEARIC ACID ON GLUCOSE METABOLISM IN A HUMAN COLON CANCER CELL LINE

Autor: C. Bergamini, C. Boga, R. Fato, D. Fiorentini, FRISCO, GIULIA, L. Masin, G. Sartor, L. Zambonin, N. Calonghi

Recent findings identified a new class of endogenous lipids, branched Fatty Acid esters of Hydroxy Fatty Acids (FAHFAs), able to behave as specific signaling molecules that can regulate the cellular metabolism [1]. Among FAHFAs, the Palmitic-Acid-9-H

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______4094::d205533356ef96fbad7364586ec34ac1
http://hdl.handle.net/11585/636351

Thiyl radicals induce c / t isomerization of PUFA within membrane P-lipids

Autor: L. Landi, C. Chatilialoglu, L. Cabrini, L. Zambonin, C. Costantino, L. Perrotta, C. F.e.r.r.e.r.i., FARAONE MENNELLA, MARIA ROSARIA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::580e2cd6159588086e20ecaf2f2e1719
http://hdl.handle.net/11588/311182