eprintid: 1452376 rev_number: 46 eprint_status: archive userid: 608 dir: disk0/01/45/23/76 datestamp: 2014-10-22 18:56:34 lastmod: 2021-12-11 23:44:17 status_changed: 2014-10-22 18:56:34 type: article metadata_visibility: show item_issues_count: 0 creators_name: Wedatilake, Y creators_name: Plagnol, V creators_name: Anderson, G creators_name: Paine, SM creators_name: Clayton, PT creators_name: Jacques, TS creators_name: Rahman, S title: Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy. ispublished: pub divisions: UCL divisions: B02 divisions: C08 divisions: D09 divisions: F99 divisions: D13 divisions: G22 divisions: G23 note: © 2014 The Authors. Neuropathology and Applied Neurobiology published by John Wiley & Sons Ltd . on behalf of British Neuropathological Society. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. abstract: Tubular aggregates (TAs) are cytoplasmic aggregates of membranous tubules derived from the sarcoplasmic reticulum and usually 50–70 nm in diameter [1]. They may be seen in a range of genetic myopathies, including gyrate atrophy caused by ornithine aminotransferase deficiency, periodic paralysis and two disorders of glycosylation caused by mutations in the GFPT1 and DPAGT1 genes [2,3]. In addition, they may occur as a minor or inconsistent feature in a wide range of myopathies or be the predominant feature in idiopathic or congenital myopathies [4]. However, the mechanisms underlying TA formation remain poorly understood. We now report the development of TAs in a patient with a lipid remodelling disorder, providing new insight into the formation of TAs. date: 2015-04 official_url: http://dx.doi.org/10.1111/nan.12190 vfaculties: VFLS oa_status: green full_text_type: pub language: eng primo: open primo_central: open_green article_type_text: Journal Article verified: verified_manual elements_source: PubMed elements_id: 987032 doi: 10.1111/nan.12190 lyricists_name: Clayton, Peter lyricists_name: Jacques, Thomas lyricists_name: Plagnol, Vincent lyricists_name: Rahman, Shamima lyricists_id: PTCLA52 lyricists_id: TJACQ32 lyricists_id: VYPLA47 lyricists_id: SRAHM75 full_text_status: public publication: Neuropathol Appl Neurobiol volume: 41 number: 3 pagerange: 399 - 402 event_location: England citation: Wedatilake, Y; Plagnol, V; Anderson, G; Paine, SM; Clayton, PT; Jacques, TS; Rahman, S; (2015) Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy. Neuropathol Appl Neurobiol , 41 (3) 399 - 402. 10.1111/nan.12190 <https://doi.org/10.1111/nan.12190>. Green open access document_url: https://discovery-pp.ucl.ac.uk/id/eprint/1452376/1/nan12190.pdf