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Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect.
Friederich MW, Geddes GC, Wortmann SB, Punnoose A, Wartchow E, Knight KM, Prokisch H, Creadon-Swindell G, Mayr JA, Van Hove JLK. Friederich MW, et al. Mol Genet Metab. 2021 Aug;133(4):362-371. doi: 10.1016/j.ymgme.2021.06.001. Epub 2021 Jun 10. Mol Genet Metab. 2021. PMID: 34140213 Free PMC article.
Exome sequencing identified compound heterozygous variants in the MRPL44 gene including the known pathogenic variant c.467 T > G and two novel pathogenic variants. ...These functional studies allow for improved understanding of the pathogenesis of MRPL44-associat …
Exome sequencing identified compound heterozygous variants in the MRPL44 gene including the known pathogenic variant c.467 T > G a …
MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy.
Distelmaier F, Haack TB, Catarino CB, Gallenmüller C, Rodenburg RJ, Strom TM, Baertling F, Meitinger T, Mayatepek E, Prokisch H, Klopstock T. Distelmaier F, et al. Neurogenetics. 2015 Oct;16(4):319-23. doi: 10.1007/s10048-015-0444-2. Epub 2015 Mar 24. Neurogenetics. 2015. PMID: 25797485
Only recently, a homozygous missense mutation (c.467T > G, p.Leu156Arg) in MRPL44, encoding a protein of the large subunit of the mitochondrial ribosome, has been identified in two siblings with hypertrophic cardiomyopathy. ...Our findings expand the clinical spectrum a …
Only recently, a homozygous missense mutation (c.467T > G, p.Leu156Arg) in MRPL44, encoding a protein of the large subunit of the …
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
Horga A, Manole A, Mitchell AL, Bugiardini E, Hargreaves IP, Mowafi W, Bettencourt C, Blakely EL, He L, Polke JM, Woodward CE, Dalla Rosa I, Shah S, Pittman AM, Quinlivan R, Reilly MM, Taylor RW, Holt IJ, Hanna MG, Pitceathly RDS, Spinazzola A, Houlden H. Horga A, et al. Mol Biol Rep. 2021 Mar;48(3):2093-2104. doi: 10.1007/s11033-021-06188-1. Epub 2021 Mar 19. Mol Biol Rep. 2021. PMID: 33742325
Analysis of whole-exome sequencing data revealed a homozygous mutation in MRPL44 (c.467 T > G), which was not present in the biological father, and a region of homozygosity involving most of chromosome 2, raising the possibility of uniparental disomy. ...This study prov …
Analysis of whole-exome sequencing data revealed a homozygous mutation in MRPL44 (c.467 T > G), which was not present in the biolo …
A Role for the Mitochondrial Protein Mrpl44 in Maintaining OXPHOS Capacity.
Yeo JH, Skinner JP, Bird MJ, Formosa LE, Zhang JG, Kluck RM, Belz GT, Chong MM. Yeo JH, et al. PLoS One. 2015 Jul 29;10(7):e0134326. doi: 10.1371/journal.pone.0134326. eCollection 2015. PLoS One. 2015. PMID: 26221731 Free PMC article.
We identified Mrpl44 in a search for mammalian proteins that contain RNase III domains. This protein was previously found in association with the mitochondrial ribosome of bovine liver extracts. However, the precise Mrpl44 localization had been unclear. Here, we sho …
We identified Mrpl44 in a search for mammalian proteins that contain RNase III domains. This protein was previously found in associat …
Genetic Basis of Severe Childhood-Onset Cardiomyopathies.
Vasilescu C, Ojala TH, Brilhante V, Ojanen S, Hinterding HM, Palin E, Alastalo TP, Koskenvuo J, Hiippala A, Jokinen E, Jahnukainen T, Lohi J, Pihkala J, Tyni TA, Carroll CJ, Suomalainen A. Vasilescu C, et al. J Am Coll Cardiol. 2018 Nov 6;72(19):2324-2338. doi: 10.1016/j.jacc.2018.08.2171. J Am Coll Cardiol. 2018. PMID: 30384889 Free article.
The disease genes converge on metabolic causes (PRKAG2, MRPL44, AARS2, HADHB, DNAJC19, PPA2, TAZ, BAG3), MAPK pathways (HRAS, PTPN11, RAF1, TAB2), development (NEK8 and TBX20), calcium signaling (JPH2, CALM1, CACNA1C), and the sarcomeric contraction cycle (TNNC1, TNNI3, AC …
The disease genes converge on metabolic causes (PRKAG2, MRPL44, AARS2, HADHB, DNAJC19, PPA2, TAZ, BAG3), MAPK pathways (HRAS, PTPN11, …
Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.
Carroll CJ, Isohanni P, Pöyhönen R, Euro L, Richter U, Brilhante V, Götz A, Lahtinen T, Paetau A, Pihko H, Battersby BJ, Tyynismaa H, Suomalainen A. Carroll CJ, et al. J Med Genet. 2013 Mar;50(3):151-9. doi: 10.1136/jmedgenet-2012-101375. Epub 2013 Jan 12. J Med Genet. 2013. PMID: 23315540
Exome sequencing uncovered a homozygous mutation (L156R) in MRPL44 of both siblings. MRPL44 encodes a protein in the large subunit of the mitochondrial ribosome and is suggested to locate in close proximity to the tunnel exit of the yeast mitochondrial ribosome. ... …
Exome sequencing uncovered a homozygous mutation (L156R) in MRPL44 of both siblings. MRPL44 encodes a protein in the large sub …
Mitochondrial ribosomal protein genes connected with Alzheimer's and tellurite toxicity.
Del Giudice L, Alifano P, Calcagnile M, Di Schiavi E, Bertapelle C, Aletta M, Pontieri P. Del Giudice L, et al. Mitochondrion. 2022 May;64:45-58. doi: 10.1016/j.mito.2022.02.006. Epub 2022 Feb 24. Mitochondrion. 2022. PMID: 35218961 Review.
Here we review the scientific literature about the recent advances on changes in mitochondrial ribosomal structural and assembly proteins that are implicated in primary mitochondrial diseases and neurodegenerative disorders, and their possible connection with metalloid pollution …
Here we review the scientific literature about the recent advances on changes in mitochondrial ribosomal structural and assembly proteins th …
A metabolic phenotype based on mitochondrial ribosomal protein expression as a predictor of lymph node metastasis in papillary thyroid carcinoma.
Lee J, Seol MY, Jeong S, Lee CR, Ku CR, Kang SW, Jeong JJ, Shin DY, Nam KH, Lee EJ, Chung WY, Jo YS. Lee J, et al. Medicine (Baltimore). 2015 Jan;94(2):e380. doi: 10.1097/MD.0000000000000380. Medicine (Baltimore). 2015. PMID: 25590838 Free PMC article.

In PTCs, metabolic phenotype according to OxPhos amount defined by expression of MRPL44 mRNA was significantly related to lymph node metastasis (LNM) (P < 0.001). Furthermore, multivariate analysis clearly indicated that expression of MRPL44 is associated with an

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In PTCs, metabolic phenotype according to OxPhos amount defined by expression of MRPL44 mRNA was significantly related to lymph node …
Tourette Syndrome Risk Genes Regulate Mitochondrial Dynamics, Structure, and Function.
Clarke RA, Furlong TM, Eapen V. Clarke RA, et al. Front Psychiatry. 2021 Mar 10;11:556803. doi: 10.3389/fpsyt.2020.556803. eCollection 2020. Front Psychiatry. 2021. PMID: 33776808 Free PMC article.
These genes include those involved in mitochondrial transport (NDE1, DISC1, OPA1), mitochondrial fusion (OPA1), fission (ADCY2, DGKB, AMPK/PKA, RCAN1, PKC), mitochondrial metabolic and bio-energetic optimization (IMMP2L, MPV17, MRPL3, MRPL44). This study is the first to de …
These genes include those involved in mitochondrial transport (NDE1, DISC1, OPA1), mitochondrial fusion (OPA1), fission (ADCY2, DGKB, AMPK/P …
21 results