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TIMM8A

December 15, 2023

Mitochondrial import inner membrane translocase subunit Tim8 A, also known as deafness-dystonia peptide or protein is an enzyme that in humans is encoded by the TIMM8A gene.[5][6][7] This translocase has similarity to yeast mitochondrial proteins that are involved in the import of metabolite transporters from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in deafness-dystonia syndrome (or Mohr-Tranebjaerg syndrome; MTS/DFN-1) and it is postulated that MTS/DFN-1 is a mitochondrial disease caused by a defective mitochondrial protein import system.[7]

TIMM8A
Identifiers
AliasesTIMM8A, DDP, DDP1, DFN1, MTS, TIM8, translocase of inner mitochondrial membrane 8 homolog A (yeast), translocase of inner mitochondrial membrane 8A
External IDsOMIM: 300356 MGI: 1353433 HomoloGene: 37878 GeneCards: TIMM8A
Orthologs
SpeciesHumanMouse
Entrez

1678

30058

Ensembl

ENSG00000126953

ENSMUSG00000048007

UniProt

O60220

Q9WVA2

RefSeq (mRNA)

NM_032696
NM_001145951
NM_004085

NM_013898

RefSeq (protein)

NP_001139423
NP_004076

NP_038926

Location (UCSC)Chr X: 101.35 – 101.35 MbChr X: 133.44 – 133.44 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Structure edit

The TIMM8A gene is located on q arm of chromosome X in position 22.1 and spans 3,313 base pairs.[8] The gene produces an 11 kDa protein composed of 97 amino acids.[9][10] The structure shows resemblance to yeast translocase of the inner membrane (TIM) proteins with two conserved paired cysteine residue motifs.[11] The cysteine residues organize zinc ions for stability and control other interactions with proteins.[11]

Function edit

The human TIMM8A gene codes for a translocase involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane.[8] It is also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. It acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins. TIMM8A has been implicated as a required element in normal neurologic development.[12]

Clinical significance edit

Mutation of TIMM8A is associated with Mohr-Tranebjaerg syndrome or deafness-dystonia syndrome, a mitochondrial disease postulated to be associated with a defective mitochondrial protein import system. [7]Mohr-Tranebjaerg syndrome is a recessive, X-linked neurodegenerative syndrome characterized by early-onset deafness followed by progressive dystonia in adulthood, progressive sensorineural hearing loss, mental retardation, dysphagia, paranoia, and optic atrophy.[13][14] It is known to be caused by a truncation or deletion of the 11 kDa protein product of TIMM8A.[15] Defects in this gene also cause Jensen syndrome, an X-linked disease with opticoacoustic nerve atrophy and muscle weakness.[8]

A 39-year-old Japanese male patient with a nonsense mutation of the CGA codon 80 of exon 2 by TGA in the TIMM8A gene was diagnosed with deafness-dystonia syndrome. Signs and symptoms included sensorineural deafness, dystonia, blepharospasm, brisk deep tendon reflexes and personality changes. However, there were no visual or sensory disturbances. The mother was found to be a heterozygous carrier for the mutation.[13] Another patient, an 11-year-old Dutch child with a de novo missense mutation (C66W; c.233C > G) in the TIMM8A gene, was diagnosed with sensorineural hearing impairment associated with Deafness-dystonia syndrome. Signs and symptoms included hyperreflexia, dyspraxia, synkinesis, atrophy, and progressive dystonia.[16] A third patient, a 30-year-old male with Deafness-dystonia syndrome, was found to have a novel 108delG mutation in the TIMM8A gene. Signs and symptoms were generalized dystonia, scoliosis, blepharospasm, and involuntary movements of the head and neck.[17] There are many more cases of mutations in the TIMM8A gene with varying symptoms, commonly including dystonia, mental deficiency, sensorineural hearing loss, optic atrophy, and others.[18][19][20][21][22]

Interactions edit

TIMM8A has been shown to interact with Signal transducing adaptor molecule[11] and TIMM13.[23][24] Three copies of TIMM8A and three copies of TIMM13 assemble to form a 70 kDa TIMM8-TIMM13 Complex with heterohexamer structure in the intermembrane space.[24][12] The TIMM8-TIMM13 Complex associates with the TIM22 complex whose core is composed of TIMM22 to import and assemble inner membrane proteins.[12]

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000126953 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000048007 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Jin H, Kendall E, Freeman TC, Roberts RG, Vetrie DL (November 1999). "The human family of Deafness/Dystonia peptide (DDP) related mitochondrial import proteins". Genomics. 61 (3): 259–67. doi:10.1006/geno.1999.5966. PMID 10552927.
  6. ^ Jin H, May M, Tranebjaerg L, Kendall E, Fontán G, Jackson J, et al. (October 1996). "A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and optic atrophy". Nature Genetics. 14 (2): 177–80. doi:10.1038/ng1096-177. PMID 8841189. S2CID 22065091.
  7. ^ a b c "Entrez Gene: TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)".
  8. ^ a b c "Entrez Gene: TIMM8A translocase of inner mitochondrial membrane 8A".
  9. ^ Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, et al. (October 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.
  10. ^ "TIMM8A - Mitochondrial import inner membrane translocase subunit Tim8 A". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).
  11. ^ a b c Blackstone C, Roberts RG, Seeburg DP, Sheng M (May 2003). "Interaction of the deafness-dystonia protein DDP/TIMM8a with the signal transduction adaptor molecule STAM1". Biochemical and Biophysical Research Communications. 305 (2): 345–52. doi:10.1016/S0006-291X(03)00767-8. PMID 12745081.
  12. ^ a b c "TIMM8A - translocase of inner mitochondrial membrane 8A, mitochondrial". UniProt.org. The UniProt Consortium.
  13. ^ a b Ujike H, Tanabe Y, Takehisa Y, Hayabara T, Kuroda S (June 2001). "A family with X-linked dystonia-deafness syndrome with a novel mutation of the DDP gene". Archives of Neurology. 58 (6): 1004–7. doi:10.1001/archneur.58.6.1004. PMID 11405816.
  14. ^ Bauer MF, Rothbauer U, Mühlenbein N, Smith RJ, Gerbitz K, Neupert W, et al. (December 1999). "The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom". FEBS Letters. 464 (1–2): 41–7. doi:10.1016/S0014-5793(99)01665-8. PMID 10611480.
  15. ^ Koehler CM, Leuenberger D, Merchant S, Renold A, Junne T, Schatz G (March 1999). "Human deafness dystonia syndrome is a mitochondrial disease". Proceedings of the National Academy of Sciences of the United States of America. 96 (5): 2141–6. Bibcode:1999PNAS...96.2141K. doi:10.1073/pnas.96.5.2141. PMC 26750. PMID 10051608.
  16. ^ Tranebjaerg L, Hamel BC, Gabreels FJ, Renier WO, Van Ghelue M (June 2000). "A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome". European Journal of Human Genetics. 8 (6): 464–7. doi:10.1038/sj.ejhg.5200483. PMID 10878669.
  17. ^ Swerdlow RH, Wooten GF (October 2001). "A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome". Annals of Neurology. 50 (4): 537–40. doi:10.1002/ana.1160. PMID 11601506. S2CID 28334892.
  18. ^ Dulski J, Schinwelski M, Mandat T, Pienczk-Ręcławowicz K, Sławek J (2016). "Long-Term Follow-Up with Video of a Patient with Deafness-Dystonia Syndrome Treated with DBS-GPi". Stereotactic and Functional Neurosurgery. 94 (2): 123–5. doi:10.1159/000445078. PMID 27100856. S2CID 46846035.
  19. ^ Shaker M, Lorigiano TH, Vadlamudi A (June 2016). "Xq22.1 contiguous gene deletion syndrome of X-linked agammaglobulinemia and Mohr-Tranebjærg syndrome". Annals of Allergy, Asthma & Immunology. 116 (6): 578–9. doi:10.1016/j.anai.2016.03.014. PMID 27048950.
  20. ^ Aguirre LA, Pérez-Bas M, Villamar M, López-Ariztegui MA, Moreno-Pelayo MA, Moreno F, del Castillo I (December 2008). "A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes". Neuromuscular Disorders. 18 (12): 979–81. doi:10.1016/j.nmd.2008.09.009. PMID 18952432. S2CID 27598478.
  21. ^ Aguirre LA, del Castillo I, Macaya A, Medá C, Villamar M, Moreno-Pelayo MA, Moreno F (February 2006). "A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome". American Journal of Medical Genetics. Part A. 140 (4): 392–7. doi:10.1002/ajmg.a.31079. PMID 16411215. S2CID 27887064.
  22. ^ Kreisel SH, Binder J, Wöhrle JC, Krauss JK, Hofmann S, Bauer MF, et al. (October 2004). "Dystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substances". Movement Disorders. 19 (10): 1241–3. doi:10.1002/mds.20150. PMID 15390009. S2CID 31590188.
  23. ^ Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
  24. ^ a b Roesch K, Curran SP, Tranebjaerg L, Koehler CM (March 2002). "Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex". Human Molecular Genetics. 11 (5): 477–86. doi:10.1093/hmg/11.5.477. PMID 11875042.

Further reading edit

  • Swerdlow RH, Juel VC, Wooten GF (2003). "Dystonia with and without deafness is caused by TIMM8A mutation". Advances in Neurology. 94: 147–54. PMID 14509668.
  • Tranebjaerg L, Schwartz C, Eriksen H, Andreasson S, Ponjavic V, Dahl A, et al. (April 1995). "A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22". Journal of Medical Genetics. 32 (4): 257–63. doi:10.1136/jmg.32.4.257. PMC 1050371. PMID 7643352.
  • Vorechovský I, Vetrie D, Holland J, Bentley DR, Thomas K, Zhou JN, et al. (June 1994). "Isolation of cosmid and cDNA clones in the region surrounding the BTK gene at Xq21.3-q22". Genomics. 21 (3): 517–24. doi:10.1006/geno.1994.1310. PMID 7959728.
  • Wallace DC, Murdock DG (March 1999). "Mitochondria and dystonia: the movement disorder connection?". Proceedings of the National Academy of Sciences of the United States of America. 96 (5): 1817–9. Bibcode:1999PNAS...96.1817W. doi:10.1073/pnas.96.5.1817. PMC 33525. PMID 10051550.
  • Nakane T, Inada Y, Ito F, Itoh N, Tazawa S, Chiba S (July 2000). "Cloning and expression of mouse deafness dystonia peptide 1 cDNA". Biochemical and Biophysical Research Communications. 273 (2): 759–64. doi:10.1006/bbrc.2000.3004. PMID 10873677.
  • Paschen SA, Rothbauer U, Káldi K, Bauer MF, Neupert W, Brunner M (December 2000). "The role of the TIM8-13 complex in the import of Tim23 into mitochondria". The EMBO Journal. 19 (23): 6392–400. doi:10.1093/emboj/19.23.6392. PMC 305865. PMID 11101512.
  • Rothbauer U, Hofmann S, Mühlenbein N, Paschen SA, Gerbitz KD, Neupert W, et al. (October 2001). "Role of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondria". The Journal of Biological Chemistry. 276 (40): 37327–34. doi:10.1074/jbc.M105313200. PMID 11489896.
  • Tranebjaerg L, Jensen PK, Van Ghelue M, Vnencak-Jones CL, Sund S, Elgjo K, et al. (December 2001). "Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene". Ophthalmic Genetics. 22 (4): 207–23. doi:10.1076/opge.22.4.207.2220. PMID 11803487. S2CID 19585131.
  • Hofmann S, Rothbauer U, Mühlenbein N, Neupert W, Gerbitz KD, Brunner M, Bauer MF (June 2002). "The C66W mutation in the deafness dystonia peptide 1 (DDP1) affects the formation of functional DDP1.TIM13 complexes in the mitochondrial intermembrane space". The Journal of Biological Chemistry. 277 (26): 23287–93. doi:10.1074/jbc.M201154200. PMID 11956200.

External links edit

  • The Deafness Dystonia Protein DDP and Mitochondrial Division - a free videolecture by Craig Blackstone, 2002.

December 15, 2023
timm8a, mitochondrial, import, inner, membrane, translocase, subunit, tim8, also, known, deafness, dystonia, peptide, protein, enzyme, that, humans, encoded, gene, this, translocase, similarity, yeast, mitochondrial, proteins, that, involved, import, metabolit. Mitochondrial import inner membrane translocase subunit Tim8 A also known as deafness dystonia peptide or protein is an enzyme that in humans is encoded by the TIMM8A gene 5 6 7 This translocase has similarity to yeast mitochondrial proteins that are involved in the import of metabolite transporters from the cytoplasm into the mitochondrial inner membrane The gene is mutated in deafness dystonia syndrome or Mohr Tranebjaerg syndrome MTS DFN 1 and it is postulated that MTS DFN 1 is a mitochondrial disease caused by a defective mitochondrial protein import system 7 TIMM8AIdentifiersAliasesTIMM8A DDP DDP1 DFN1 MTS TIM8 translocase of inner mitochondrial membrane 8 homolog A yeast translocase of inner mitochondrial membrane 8AExternal IDsOMIM 300356 MGI 1353433 HomoloGene 37878 GeneCards TIMM8AGene location Human Chr X chromosome human 1 BandXq22 1Start101 345 661 bp 1 End101 348 742 bp 1 Gene location Mouse Chr X chromosome mouse 2 BandX E3 X 56 18 cMStart133 438 005 bp 2 End133 442 614 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inendothelial cellright lobe of liverislet of Langerhansleft ventriclerectummuscle of leggastrocnemius musclestromal cell of endometriumprefrontal cortexganglionic eminenceTop expressed inmorulayolk sacproximal tubuleneural tubelipesophagusstomachsuperior frontal gyrusduodenumsecondary oocyteMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionprotein binding metal ion bindingCellular componentmitochondrial inner membrane mitochondrial intermembrane space mitochondrion membraneBiological processprotein transport nervous system development transportSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez167830058EnsemblENSG00000126953ENSMUSG00000048007UniProtO60220Q9WVA2RefSeq mRNA NM 032696NM 001145951NM 004085NM 013898RefSeq protein NP 001139423NP 004076NP 038926Location UCSC Chr X 101 35 101 35 MbChr X 133 44 133 44 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Structure 2 Function 3 Clinical significance 4 Interactions 5 References 6 Further reading 7 External linksStructure editThe TIMM8A gene is located on q arm of chromosome X in position 22 1 and spans 3 313 base pairs 8 The gene produces an 11 kDa protein composed of 97 amino acids 9 10 The structure shows resemblance to yeast translocase of the inner membrane TIM proteins with two conserved paired cysteine residue motifs 11 The cysteine residues organize zinc ions for stability and control other interactions with proteins 11 Function editThe human TIMM8A gene codes for a translocase involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane 8 It is also required for the transfer of beta barrel precursors from the TOM complex to the sorting and assembly machinery SAM complex of the outer membrane It acts as a chaperone like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space The TIMM8 TIMM13 complex mediates the import of proteins such as TIMM23 SLC25A12 ARALAR1 and SLC25A13 ARALAR2 while the predominant TIMM9 TIMM10 70 kDa complex mediates the import of much more proteins TIMM8A has been implicated as a required element in normal neurologic development 12 Clinical significance editMutation of TIMM8A is associated with Mohr Tranebjaerg syndrome or deafness dystonia syndrome a mitochondrial disease postulated to be associated with a defective mitochondrial protein import system 7 Mohr Tranebjaerg syndrome is a recessive X linked neurodegenerative syndrome characterized by early onset deafness followed by progressive dystonia in adulthood progressive sensorineural hearing loss mental retardation dysphagia paranoia and optic atrophy 13 14 It is known to be caused by a truncation or deletion of the 11 kDa protein product of TIMM8A 15 Defects in this gene also cause Jensen syndrome an X linked disease with opticoacoustic nerve atrophy and muscle weakness 8 A 39 year old Japanese male patient with a nonsense mutation of the CGA codon 80 of exon 2 by TGA in the TIMM8A gene was diagnosed with deafness dystonia syndrome Signs and symptoms included sensorineural deafness dystonia blepharospasm brisk deep tendon reflexes and personality changes However there were no visual or sensory disturbances The mother was found to be a heterozygous carrier for the mutation 13 Another patient an 11 year old Dutch child with a de novo missense mutation C66W c 233C gt G in the TIMM8A gene was diagnosed with sensorineural hearing impairment associated with Deafness dystonia syndrome Signs and symptoms included hyperreflexia dyspraxia synkinesis atrophy and progressive dystonia 16 A third patient a 30 year old male with Deafness dystonia syndrome was found to have a novel 108delG mutation in the TIMM8A gene Signs and symptoms were generalized dystonia scoliosis blepharospasm and involuntary movements of the head and neck 17 There are many more cases of mutations in the TIMM8A gene with varying symptoms commonly including dystonia mental deficiency sensorineural hearing loss optic atrophy and others 18 19 20 21 22 Interactions editTIMM8A has been shown to interact with Signal transducing adaptor molecule 11 and TIMM13 23 24 Three copies of TIMM8A and three copies of TIMM13 assemble to form a 70 kDa TIMM8 TIMM13 Complex with heterohexamer structure in the intermembrane space 24 12 The TIMM8 TIMM13 Complex associates with the TIM22 complex whose core is composed of TIMM22 to import and assemble inner membrane proteins 12 References edit a b c GRCh38 Ensembl release 89 ENSG00000126953 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000048007 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Jin H Kendall E Freeman TC Roberts RG Vetrie DL November 1999 The human family of Deafness Dystonia peptide DDP related mitochondrial import proteins Genomics 61 3 259 67 doi 10 1006 geno 1999 5966 PMID 10552927 Jin H May M Tranebjaerg L Kendall E Fontan G Jackson J et al October 1996 A novel X linked gene DDP shows mutations in families with deafness DFN 1 dystonia mental deficiency and optic atrophy Nature Genetics 14 2 177 80 doi 10 1038 ng1096 177 PMID 8841189 S2CID 22065091 a b c Entrez Gene TIMM8A translocase of inner mitochondrial membrane 8 homolog A yeast a b c Entrez Gene TIMM8A translocase of inner mitochondrial membrane 8A Zong NC Li H Li H Lam MP Jimenez RC Kim CS et al October 2013 Integration of cardiac proteome biology and medicine by a specialized knowledgebase Circulation Research 113 9 1043 53 doi 10 1161 CIRCRESAHA 113 301151 PMC 4076475 PMID 23965338 TIMM8A Mitochondrial import inner membrane translocase subunit Tim8 A Cardiac Organellar Protein Atlas Knowledgebase COPaKB a b c Blackstone C Roberts RG Seeburg DP Sheng M May 2003 Interaction of the deafness dystonia protein DDP TIMM8a with the signal transduction adaptor molecule STAM1 Biochemical and Biophysical Research Communications 305 2 345 52 doi 10 1016 S0006 291X 03 00767 8 PMID 12745081 a b c TIMM8A translocase of inner mitochondrial membrane 8A mitochondrial UniProt org The UniProt Consortium a b Ujike H Tanabe Y Takehisa Y Hayabara T Kuroda S June 2001 A family with X linked dystonia deafness syndrome with a novel mutation of the DDP gene Archives of Neurology 58 6 1004 7 doi 10 1001 archneur 58 6 1004 PMID 11405816 Bauer MF Rothbauer U Muhlenbein N Smith RJ Gerbitz K Neupert W et al December 1999 The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom FEBS Letters 464 1 2 41 7 doi 10 1016 S0014 5793 99 01665 8 PMID 10611480 Koehler CM Leuenberger D Merchant S Renold A Junne T Schatz G March 1999 Human deafness dystonia syndrome is a mitochondrial disease Proceedings of the National Academy of Sciences of the United States of America 96 5 2141 6 Bibcode 1999PNAS 96 2141K doi 10 1073 pnas 96 5 2141 PMC 26750 PMID 10051608 Tranebjaerg L Hamel BC Gabreels FJ Renier WO Van Ghelue M June 2000 A de novo missense mutation in a critical domain of the X linked DDP gene causes the typical deafness dystonia optic atrophy syndrome European Journal of Human Genetics 8 6 464 7 doi 10 1038 sj ejhg 5200483 PMID 10878669 Swerdlow RH Wooten GF October 2001 A novel deafness dystonia peptide gene mutation that causes dystonia in female carriers of Mohr Tranebjaerg syndrome Annals of Neurology 50 4 537 40 doi 10 1002 ana 1160 PMID 11601506 S2CID 28334892 Dulski J Schinwelski M Mandat T Pienczk Reclawowicz K Slawek J 2016 Long Term Follow Up with Video of a Patient with Deafness Dystonia Syndrome Treated with DBS GPi Stereotactic and Functional Neurosurgery 94 2 123 5 doi 10 1159 000445078 PMID 27100856 S2CID 46846035 Shaker M Lorigiano TH Vadlamudi A June 2016 Xq22 1 contiguous gene deletion syndrome of X linked agammaglobulinemia and Mohr Tranebjaerg syndrome Annals of Allergy Asthma amp Immunology 116 6 578 9 doi 10 1016 j anai 2016 03 014 PMID 27048950 Aguirre LA Perez Bas M Villamar M Lopez Ariztegui MA Moreno Pelayo MA Moreno F del Castillo I December 2008 A Spanish sporadic case of deafness dystonia Mohr Tranebjaerg syndrome with a novel mutation in the gene encoding TIMM8a a component of the mitochondrial protein translocase complexes Neuromuscular Disorders 18 12 979 81 doi 10 1016 j nmd 2008 09 009 PMID 18952432 S2CID 27598478 Aguirre LA del Castillo I Macaya A Meda C Villamar M Moreno Pelayo MA Moreno F February 2006 A novel mutation in the gene encoding TIMM8a a component of the mitochondrial protein translocase complexes in a Spanish familial case of deafness dystonia Mohr Tranebjaerg syndrome American Journal of Medical Genetics Part A 140 4 392 7 doi 10 1002 ajmg a 31079 PMID 16411215 S2CID 27887064 Kreisel SH Binder J Wohrle JC Krauss JK Hofmann S Bauer MF et al October 2004 Dystonia in the Mohr Tranebjaerg syndrome responds to GABAergic substances Movement Disorders 19 10 1241 3 doi 10 1002 mds 20150 PMID 15390009 S2CID 31590188 Ewing RM Chu P Elisma F Li H Taylor P Climie S et al 2007 Large scale mapping of human protein protein interactions by mass spectrometry Molecular Systems Biology 3 1 89 doi 10 1038 msb4100134 PMC 1847948 PMID 17353931 a b Roesch K Curran SP Tranebjaerg L Koehler CM March 2002 Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1 TIMM8a TIMM13 complex Human Molecular Genetics 11 5 477 86 doi 10 1093 hmg 11 5 477 PMID 11875042 Further reading editSwerdlow RH Juel VC Wooten GF 2003 Dystonia with and without deafness is caused by TIMM8A mutation Advances in Neurology 94 147 54 PMID 14509668 Tranebjaerg L Schwartz C Eriksen H Andreasson S Ponjavic V Dahl A et al April 1995 A new X linked recessive deafness syndrome with blindness dystonia fractures and mental deficiency is linked to Xq22 Journal of Medical Genetics 32 4 257 63 doi 10 1136 jmg 32 4 257 PMC 1050371 PMID 7643352 Vorechovsky I Vetrie D Holland J Bentley DR Thomas K Zhou JN et al June 1994 Isolation of cosmid and cDNA clones in the region surrounding the BTK gene at Xq21 3 q22 Genomics 21 3 517 24 doi 10 1006 geno 1994 1310 PMID 7959728 Wallace DC Murdock DG March 1999 Mitochondria and dystonia the movement disorder connection Proceedings of the National Academy of Sciences of the United States of America 96 5 1817 9 Bibcode 1999PNAS 96 1817W doi 10 1073 pnas 96 5 1817 PMC 33525 PMID 10051550 Nakane T Inada Y Ito F Itoh N Tazawa S Chiba S July 2000 Cloning and expression of mouse deafness dystonia peptide 1 cDNA Biochemical and Biophysical Research Communications 273 2 759 64 doi 10 1006 bbrc 2000 3004 PMID 10873677 Paschen SA Rothbauer U Kaldi K Bauer MF Neupert W Brunner M December 2000 The role of the TIM8 13 complex in the import of Tim23 into mitochondria The EMBO Journal 19 23 6392 400 doi 10 1093 emboj 19 23 6392 PMC 305865 PMID 11101512 Rothbauer U Hofmann S Muhlenbein N Paschen SA Gerbitz KD Neupert W et al October 2001 Role of the deafness dystonia peptide 1 DDP1 in import of human Tim23 into the inner membrane of mitochondria The Journal of Biological Chemistry 276 40 37327 34 doi 10 1074 jbc M105313200 PMID 11489896 Tranebjaerg L Jensen PK Van Ghelue M Vnencak Jones CL Sund S Elgjo K et al December 2001 Neuronal cell death in the visual cortex is a prominent feature of the X linked recessive mitochondrial deafness dystonia syndrome caused by mutations in the TIMM8a gene Ophthalmic Genetics 22 4 207 23 doi 10 1076 opge 22 4 207 2220 PMID 11803487 S2CID 19585131 Hofmann S Rothbauer U Muhlenbein N Neupert W Gerbitz KD Brunner M Bauer MF June 2002 The C66W mutation in the deafness dystonia peptide 1 DDP1 affects the formation of functional DDP1 TIM13 complexes in the mitochondrial intermembrane space The Journal of Biological Chemistry 277 26 23287 93 doi 10 1074 jbc M201154200 PMID 11956200 External links editThe Deafness Dystonia Protein DDP and Mitochondrial Division a free videolecture by Craig Blackstone 2002 Retrieved from https en wikipedia org w index php title TIMM8A amp oldid 1187392553, wikipedia, wiki, book, books, library,

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