Citations for
1LETM1, SLC8B1
NCLX protein, but not LETM1, mediates mitochondrial Ca2+ extrusion, thereby limiting Ca2+-induced NAD(P)H production and modulating matrix redox state.
De Marchi U, Santo-Domingo J, Castelbou C, Sekler I, Wiederkehr A, Demaurex N.
J Biol Chem 289(29):20377-85. doi: 10.1074/jbc.M113.540898. 2014
2LETM1
Endoplasmic reticulum potassium-hydrogen exchanger and small conductance calcium-activated potassium channel activities are essential for ER calcium uptake in neurons and cardiomyocytes.
Kuum M, Veksler V, Liiv J, Ventura-Clapier R, Kaasik A.
J Cell Sci 125(Pt 3):625-33. Epub 2012 Feb 13. 2012
3LETM1, MICU1, UCP2, UCP3
Leucine zipper EF hand-containing transmembrane protein 1 (Letm1) and uncoupling proteins 2 and 3 (UCP2/3) contribute to two distinct mitochondrial Ca2+ uptake pathways.
Waldeck-Weiermair M, Jean-Quartier C, Rost R, Khan MJ, Vishnu N, Bondarenko AI, Imamura H, Malli R, Graier WF.
J Biol Chem 286(32):28444-55. Epub 2011 May 25. 2011
4LETM1
A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features.
Cyr AB, Nimmakayalu M, Longmuir SQ, Patil SR, Keppler-Noreuil KM, Shchelochkov OA.
Am J Med Genet A 155A(9):2224-8. doi: 10.1002/ajmg.a.34120. Epub 2011 Aug 3. 2011
5LETM1
Suppression of lung tumorigenesis by leucine zipper/EF hand-containing transmembrane-1.
Hwang SK, Piao L, Lim HT, Minai-Tehrani A, Yu KN, Ha YC, Chae CH, Lee KH, Beck GR, Park J, Cho MH.
PLoS One 5(9). pii: e12535. 2010
6LETM1, WHS
A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome.
McQuibban AG, Joza N, Megighian A, Scorzeto M, Zanini D, Reipert S, Richter C, Schweyen RJ, Nowikovsky K.
Hum Mol Genet 19(6):987-1000. Epub 2009 Dec 21. 2010
7LETM1, MRPL36
Association of LETM1 and MRPL36 contributes to the regulation of mitochondrial ATP production and necrotic cell death.
Piao L, Li Y, Kim SJ, Byun HS, Huang SM, Hwang SK, Yang KJ, Park KA, Won M, Hong J, Hur GM, Seok JH, Shong M, Cho MH, Brazil DP, Hemmings BA, Park J.
Cancer Res 69(8):3397-404. Epub 2009 Mar 24. 2009
8LETM1, THEM4
Regulation of OPA1-mediated mitochondrial fusion by leucine zipper/EF-hand-containing transmembrane protein-1 plays a role in apoptosis.
Piao L, Li Y, Kim SJ, Sohn KC, Yang KJ, Park KA, Byun HS, Won M, Hong J, Hur GM, Seok JH, Shong M, Sack R, Brazil DP, Hemmings BA, Park J.
Cell Signal 21(5):767-77. Epub 2009 Jan 9. 2009
9LETM1, WHS
LETM1, deleted in Wolf Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability.
Dimmer KS, Navoni F, Casarin A, Trevisson E, Endele S, Winterpacht A, Salviati L, Scorrano L.
Hum Mol Genet 17(2):201-14. Epub 2007 Oct 9. 2008
10LETM1, NELFA, WHS, WHSC1
Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).
Maas NM, Van Buggenhout G, Hannes F, Thienpont B, Sanlaville D, Kok K, Midro A, Andrieux J, Anderlid BM, Schoumans J, Hordijk R, Devriendt K, Fryns JP, Vermeesch JR.
J Med Genet 45(2):71-80. Epub 2007 Sep 14. 2008
11BCS1L, LETM1
Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L.
Tamai S, Iida H, Yokota S, Sayano T, Kiguchiya S, Ishihara N, Hayashi J, Mihara K, Oka T.
J Cell Sci 121(Pt 15):2588-600. Epub 2008 Jul 15.PMID: 18628306 2008
12LETM1
Inverse correlation between expression of the Wolfs Hirschhorn candidate gene Letm1 and mitochondrial volume in C. elegans and in mammalian cells.
Hasegawa A, van der Bliek AM.
Hum Mol Genet 16(17):2061-71. Epub 2007 Jul 2. 2007
13LETM1, NELFA, WHS, WHSC1, WHSCR
The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): A description of a second case.
Rodriguez L, Zollino M, Climent S, Mansilla E, Lopez-Grondona F, Martinez-Fernandez ML, Murdolo M, Martinez-Frias ML.
Am J Med Genet A 136(2):175-8. 2005
14LETM1, WHS, WHSCR
LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein.
Schlickum S, Moghekar A, Simpson JC, Steglich C, O'Brien RJ, Winterpacht A, Endele SU.
Genomics 83(2):254-61. 2004
15LETM1, WHSCR, WHS
The LETM1/YOL027 gene family encodes a factor of the mitochondrial K+ homeostasis with a potential role in the Wolf-Hirschhorn syndrome.
Nowikovsky K, Froschauer EM, Zsurka G, Samaj J, Reipert S, Kolisek M, Wiesenberger G, Schweyen RJ.
J Biol Chem 279(29):30307-15. Epub 2004 May 11. 2004
16WHS, WHSCR, LETM1
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.
Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A, Butte C, Memo L, Capovilla G, Neri G.
Am J Hum Genet 72(3):590-7. 2003
17LETM1, WHS, WHSCR
LETM1, A novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the wolf-hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients.
Endele S, et al.
Genomics 60(2):218-25 1999