{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,21]],"date-time":"2026-06-21T04:05:17Z","timestamp":1782014717312,"version":"3.54.5"},"reference-count":24,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2014,7,1]],"date-time":"2014-07-01T00:00:00Z","timestamp":1404172800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["DNA and Cell Biology"],"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:p>\n                    Mutations in serine palmitoyltransferase long chain subunit 1 (\n                    <jats:italic toggle=\"yes\">SPTLC1<\/jats:italic>\n                    ) cause the typical length-dependent axonal degeneration hereditary sensory neuropathy type 1 (HSN1). Transmission electron microscopy studies on SPTLC1 mutant lymphoblasts derived from patients revealed specific structural abnormalities of mitochondria. Swollen mitochondria with abnormal cristae were clustered around the nucleus, with some mitochondria being wrapped in rough endoplasmic reticulum (ER) membranes. Total mitochondrial counts revealed a significant change in mitochondrial numbers between healthy and diseased lymphocytes but did not reveal any change in length to width ratios nor were there any changes to cellular function. However, there was a notable change in ER homeostasis, as assessed using key ER stress markers, BiP and ERO1-L\u03b1, displaying reduced protein expression. The observations suggest that\n                    <jats:italic toggle=\"yes\">SPTLC1<\/jats:italic>\n                    mutations cause mitochondrial abnormalities and ER stress in HSN1 cells.\n                  <\/jats:p>","DOI":"10.1089\/dna.2013.2182","type":"journal-article","created":{"date-parts":[[2014,3,27]],"date-time":"2014-03-27T16:41:40Z","timestamp":1395938500000},"page":"399-407","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":29,"title":["Mutations in the\n                    <i>SPTLC1<\/i>\n                    Protein Cause Mitochondrial Structural Abnormalities and Endoplasmic Reticulum Stress in Lymphoblasts"],"prefix":"10.1177","volume":"33","author":[{"given":"Simon J.","family":"Myers","sequence":"first","affiliation":[{"name":"University of Western Sydney","place":["Australia"]},{"name":"University of Western Sydney","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chandra S.","family":"Malladi","sequence":"additional","affiliation":[{"name":"University of Western Sydney","place":["Australia"]},{"name":"University of Western Sydney","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan A.","family":"Hyland","sequence":"additional","affiliation":[{"name":"University of Western Sydney","place":["Australia"]},{"name":"University of Western Sydney","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tara","family":"Bautista","sequence":"additional","affiliation":[{"name":"University of Melbourne","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ross","family":"Boadle","sequence":"additional","affiliation":[{"name":"Institute of Clinical Pathology and Medical Research","place":["Australia"]},{"name":"Westmead Millenium Institute","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phillip J.","family":"Robinson","sequence":"additional","affiliation":[{"name":"University of Sydney","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Garth A.","family":"Nicholson","sequence":"additional","affiliation":[{"name":"University of Sydney","place":["Australia"]},{"name":"University of Sydney","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2014,7,1]]},"reference":[{"key":"e_1_3_3_2_1","doi-asserted-by":"crossref","first-page":"4211","DOI":"10.1167\/iovs.06-0295","article-title":"Mitochondrial abnormalities in patients with LHON-like optic neuropathies","volume":"47","author":"Abu-Amero K.K.","year":"2006","unstructured":"Abu-Amero K.K., , and Bosley T.M. (2006). Mitochondrial abnormalities in patients with LHON-like optic neuropathies. Invest Ophthalmol Vis Sci, 47, 4211\u20134220.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"e_1_3_3_3_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4798-06.2007"},{"key":"e_1_3_3_4_1","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1172\/JCI0216450","article-title":"Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis","volume":"110","author":"Bejaoui K.","year":"2002","unstructured":"Bejaoui K., , Uchida Y., , Yasuda S., , Ho M., , Nishijima M., , Brown R.H.Jr., , Holleran W.M., , and Hanada K. (2002). Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. J Clin Invest, 110, 1301\u20131308.","journal-title":"J Clin Invest"},{"key":"e_1_3_3_5_1","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1002\/jemt.1070270303","article-title":"Dynamics of mitochondria in living cells: shape changes, dislocations, fusion and fission of mitochondria","volume":"27","author":"Bereiter-Hahn J.","year":"1994","unstructured":"Bereiter-Hahn J., , and Voth M. (1994). Dynamics of mitochondria in living cells: shape changes, dislocations, fusion and fission of mitochondria. Microscopy Res Tech, 27, 198\u2013219.","journal-title":"Microscopy Res Tech"},{"key":"e_1_3_3_6_1","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1002\/glia.20386","article-title":"Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease)","volume":"54","author":"Berger P.","year":"2006","unstructured":"Berger P., , Niemann A., , and Suter U. (2006). Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease). Glia, 54, 243\u2013257.","journal-title":"Glia"},{"key":"e_1_3_3_7_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0707-05.2005"},{"key":"e_1_3_3_8_1","doi-asserted-by":"crossref","first-page":"10032","DOI":"10.1523\/JNEUROSCI.23-31-10032.2003","article-title":"The role of the ankyrin-binding protein NrCAM in node of Ranvier formation","volume":"23","author":"Custer A.W.","year":"2003","unstructured":"Custer A.W., , Kazarinova-Noyes K., , Sakurai T., , Xu X., , Simon W., , Grumet M., , and Shrager P. (2003). The role of the ankyrin-binding protein NrCAM in node of Ranvier formation. J Neurosci, 23, 10032\u201310039.","journal-title":"J Neurosci"},{"key":"e_1_3_3_9_1","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1038\/85879","article-title":"Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I","volume":"27","author":"Dawkins J.L.","year":"2001","unstructured":"Dawkins J.L., , Hulme D.J., , Brahmbhatt S.B., , Auer-Grumbach M., , and Nicholson G.A. (2001). Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Gen, 27, 309\u2013312.","journal-title":"Nat Gen"},{"key":"e_1_3_3_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2003.12.005"},{"key":"e_1_3_3_11_1","first-page":"1","article-title":"The nature of muscular diseases","volume":"67","author":"Denny-Brown D.","year":"1952","unstructured":"Denny-Brown D. (1952). The nature of muscular diseases. Can Med Assoc J, 67, 1\u20136.","journal-title":"Can Med Assoc J"},{"key":"e_1_3_3_12_1","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1007\/s10048-008-0168-7","article-title":"A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated","volume":"10","author":"Hornemann T.","year":"2009","unstructured":"Hornemann T., , Penno A., , Richard S., , Nicholson G., , van Dijk F., , Rotthier A., , Timmerman V., , and von Eckardstein A. (2009). A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated. Neurogenetics, 10, 135\u2013143.","journal-title":"Neurogenetics"},{"key":"e_1_3_3_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2006.03990.x"},{"key":"e_1_3_3_14_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e02-06-0330"},{"key":"e_1_3_3_15_1","first-page":"91","article-title":"The peroneal muscular atrophy syndrome","volume":"32","author":"Madrid R.","year":"1977","unstructured":"Madrid R., , Bradley W.G., , and Davis C.J. (1977). The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. Part 2. Observations on pathological changes in sural nerve biopsies. J Neurol Sci, 32, 91\u2013122.","journal-title":"Clinical, genetic, electrophysiological and nerve biopsy studies. Part 2. Observations on pathological changes in sural nerve biopsies. J Neurol Sci"},{"key":"e_1_3_3_16_1","doi-asserted-by":"crossref","first-page":"2715","DOI":"10.1038\/emboj.2010.177","article-title":"An intimate liaison: spatial organization of the endoplasmic reticulum-mitochondria relationship","volume":"29","author":"Martins de Brito O.","year":"2010","unstructured":"Martins de Brito O., , and Scorrano L. (2010). An intimate liaison: spatial organization of the endoplasmic reticulum-mitochondria relationship. EMBO J, 29, 2715\u20132723.","journal-title":"EMBO J"},{"key":"e_1_3_3_17_1","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1242\/jcs.093849","article-title":"PINK1- and Parkin- mediated mitophagy at a glance","volume":"125","author":"Min Jin S.","year":"2012","unstructured":"Min Jin S., , and Youle R. (2012). PINK1- and Parkin- mediated mitophagy at a glance. J Cell Sci, 125, 795\u2013799.","journal-title":"J Cell Sci"},{"key":"e_1_3_3_18_1","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.neures.2006.02.010","article-title":"The dynamin-related mouse mitochondrial GTPase OPA1 alters the structure of the mitochondrial inner membrane when exogenously introduced into COS-7 cells","volume":"55","author":"Misaka T.","year":"2006","unstructured":"Misaka T., , Murate M., , Fujimoto K., , and Kubo Y. (2006). The dynamin-related mouse mitochondrial GTPase OPA1 alters the structure of the mitochondrial inner membrane when exogenously introduced into COS-7 cells. Neurosci Res, 55, 123\u2013133.","journal-title":"Neurosci Res"},{"key":"e_1_3_3_19_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200507087"},{"key":"e_1_3_3_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvm029"},{"key":"e_1_3_3_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi121"},{"key":"e_1_3_3_22_1","first-page":"415","article-title":"Abnormal Schwann cell-axon interactions in CMT neuropathies","volume":"883","author":"Sahenk Z.","year":"1999","unstructured":"Sahenk Z. (1999). Abnormal Schwann cell-axon interactions in CMT neuropathies. The effects of mutant Schwann cells on the axonal cytoskeleton and regeneration-asociated myelination. Ann NY Acad Sci, 883, 415\u2013426.","journal-title":"The effects of mutant Schwann cells on the axonal cytoskeleton and regeneration-asociated myelination. Ann NY Acad Sci"},{"key":"e_1_3_3_23_1","doi-asserted-by":"crossref","first-page":"2273","DOI":"10.1242\/jcs.108.6.2273","article-title":"Actin-dependent light-induced translocation of mitochondria and ER cisternae in the photoreceptor cells of the locust Schistocerca gregaria","volume":"108","author":"Sturmer K.","year":"1995","unstructured":"Sturmer K., , Baumann O., , and Walz B. (1995). Actin-dependent light-induced translocation of mitochondria and ER cisternae in the photoreceptor cells of the locust Schistocerca gregaria. J Cell Sci, 108, 2273\u20132283.","journal-title":"J Cell Sci"},{"key":"e_1_3_3_24_1","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1212\/01.WNL.0000115388.10828.5C","article-title":"SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I","volume":"62","author":"Verhoeven K.","year":"2004","unstructured":"Verhoeven K., , Coen K., , De Vriendt E., , Jacobs A., , Van Gerwen V., , Smouts I., , Pou-Serradell A., , Martin J.J., , Timmerman V., , and De Jonghe P. (2004). SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I. Neurology, 62, 1001\u20131002.","journal-title":"Neurology"},{"key":"e_1_3_3_25_1","first-page":"618","article-title":"Pro370Leu mutant myocilin disturbs the endoplasm reticulum stress response and mitochondrial membrane potential in human trabecular meshwork cells","volume":"13","author":"Wang L.","year":"2007","unstructured":"Wang L., , Zhou Y., , Liu B., , Huang S., , Hou F., , and Ge J. (2007). Pro370Leu mutant myocilin disturbs the endoplasm reticulum stress response and mitochondrial membrane potential in human trabecular meshwork cells. Mol Vis, 13, 618\u2013625.","journal-title":"Mol Vis"}],"container-title":["DNA and Cell Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/dna.2013.2182","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/dna.2013.2182","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/dna.2013.2182","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T15:11:26Z","timestamp":1773241886000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/dna.2013.2182"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7]]},"references-count":24,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2014,7]]}},"alternative-id":["10.1089\/dna.2013.2182"],"URL":"https:\/\/doi.org\/10.1089\/dna.2013.2182","relation":{},"ISSN":["1044-5498","1557-7430"],"issn-type":[{"value":"1044-5498","type":"print"},{"value":"1557-7430","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,7]]}}}