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Items: 1 to 20 of 153

1.

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.

Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, Heno B, Gershoni-Baruch R, Skorecki K, Mandel H.

Am J Hum Genet. 2008 Jul;83(1):30-42. doi: 10.1016/j.ajhg.2008.05.016. Epub 2008 Jun 19.

2.

Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient.

Kusk MS, Damgaard B, Risom L, Hansen B, Ostergaard E.

Neuropediatrics. 2016 Oct;47(5):332-5. doi: 10.1055/s-0036-1584564. Epub 2016 Jul 12.

PMID:
27405012
3.

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.

Hansen JJ, Dürr A, Cournu-Rebeix I, Georgopoulos C, Ang D, Nielsen MN, Davoine CS, Brice A, Fontaine B, Gregersen N, Bross P.

Am J Hum Genet. 2002 May;70(5):1328-32. Epub 2002 Mar 15.

4.

Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease.

Henneke M, Gegner S, Hahn A, Plecko-Startinig B, Weschke B, Gärtner J, Brockmann K.

Neurology. 2010 Jun 1;74(22):1785-9. doi: 10.1212/WNL.0b013e3181e0f820.

PMID:
20513814
5.

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.

Bugiani M, Al Shahwan S, Lamantea E, Bizzi A, Bakhsh E, Moroni I, Balestrini MR, Uziel G, Zeviani M.

Neurology. 2006 Jul 25;67(2):273-9. Epub 2006 May 17.

PMID:
16707726
6.

Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.

Feinstein M, Markus B, Noyman I, Shalev H, Flusser H, Shelef I, Liani-Leibson K, Shorer Z, Cohen I, Khateeb S, Sivan S, Birk OS.

Am J Hum Genet. 2010 Dec 10;87(6):820-8. doi: 10.1016/j.ajhg.2010.10.016. Epub 2010 Nov 18.

7.

A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.

Salviati L, Trevisson E, Baldoin MC, Toldo I, Sartori S, Calderone M, Tenconi R, Laverda A.

Neurogenetics. 2007 Jan;8(1):57-60. Epub 2006 Oct 10.

PMID:
17031678
8.

Hypomyelinating leukodystrophy-associated missense mutation in HSPD1 blunts mitochondrial dynamics.

Miyamoto Y, Eguchi T, Kawahara K, Hasegawa N, Nakamura K, Funakoshi-Tago M, Tanoue A, Tamura H, Yamauchi J.

Biochem Biophys Res Commun. 2015 Jul 3;462(3):275-81. doi: 10.1016/j.bbrc.2015.04.132. Epub 2015 May 6.

PMID:
25957474
9.

Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene.

Sartori S, Burlina AB, Salviati L, Trevisson E, Toldo I, Laverda AM, Burlina AP.

Eur J Paediatr Neurol. 2008 Jul;12(4):348-50. Epub 2007 Sep 18.

PMID:
17881259
10.

PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.

Bonnet-Dupeyron MN, Combes P, Santander P, Cailloux F, Boespflug-Tanguy O, Vaurs-Barrière C.

Hum Mutat. 2008 Aug;29(8):1028-36. doi: 10.1002/humu.20758.

PMID:
18470932
11.

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

Uhlenberg B, Schuelke M, Rüschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloğlu H, Nürnberg P, Hübner C, Weschke B, Gärtner J.

Am J Hum Genet. 2004 Aug;75(2):251-60. Epub 2004 Jun 10. Erratum in: Am J Hum Genet. 2004 Oct;5(4):737.

12.

Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.

Lossos A, Elazar N, Lerer I, Schueler-Furman O, Fellig Y, Glick B, Zimmerman BE, Azulay H, Dotan S, Goldberg S, Gomori JM, Ponger P, Newman JP, Marreed H, Steck AJ, Schaeren-Wiemers N, Mor N, Harel M, Geiger T, Eshed-Eisenbach Y, Meiner V, Peles E.

Brain. 2015 Sep;138(Pt 9):2521-36. doi: 10.1093/brain/awv204. Epub 2015 Jul 15.

13.

GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.

Henneke M, Combes P, Diekmann S, Bertini E, Brockmann K, Burlina AP, Kaiser J, Ohlenbusch A, Plecko B, Rodriguez D, Boespflug-Tanguy O, Gärtner J.

Neurology. 2008 Mar 4;70(10):748-54. Epub 2007 Dec 19.

PMID:
18094336
14.

The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.

Hoffman-Zacharska D, Mierzewska H, Szczepanik E, Poznański J, Mazurczak T, Jakubiuk-Tomaszuk A, Mądry J, Kierdaszuk A, Bal J.

Med Wieku Rozwoj. 2013 Oct-Dec;17(4):293-300.

15.

The MitCHAP-60 disease is due to entropic destabilization of the human mitochondrial Hsp60 oligomer.

Parnas A, Nadler M, Nisemblat S, Horovitz A, Mandel H, Azem A.

J Biol Chem. 2009 Oct 9;284(41):28198-203. doi: 10.1074/jbc.M109.031997. Epub 2009 Aug 25.

16.

Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice.

Magnoni R, Palmfeldt J, Christensen JH, Sand M, Maltecca F, Corydon TJ, West M, Casari G, Bross P.

Neurobiol Dis. 2013 Jun;54:12-23. doi: 10.1016/j.nbd.2013.02.012. Epub 2013 Mar 4.

PMID:
23466696
17.

Inactivation of the hereditary spastic paraplegia-associated Hspd1 gene encoding the Hsp60 chaperone results in early embryonic lethality in mice.

Christensen JH, Nielsen MN, Hansen J, Füchtbauer A, Füchtbauer EM, West M, Corydon TJ, Gregersen N, Bross P.

Cell Stress Chaperones. 2010 Nov;15(6):851-63. doi: 10.1007/s12192-010-0194-x.

18.

Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13).

Hansen J, Corydon TJ, Palmfeldt J, Dürr A, Fontaine B, Nielsen MN, Christensen JH, Gregersen N, Bross P.

Neuroscience. 2008 May 2;153(2):474-82. doi: 10.1016/j.neuroscience.2008.01.070. Epub 2008 Feb 19.

PMID:
18378094
19.

Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.

Compton AG, Albrecht DE, Seto JT, Cooper ST, Ilkovski B, Jones KJ, Challis D, Mowat D, Ranscht B, Bahlo M, Froehner SC, North KN.

Am J Hum Genet. 2008 Dec;83(6):714-24. doi: 10.1016/j.ajhg.2008.10.022. Epub 2008 Nov 20.

20.

Molecular chaperone disorders: defective Hsp60 in neurodegeneration.

Bross P, Magnoni R, Bie AS.

Curr Top Med Chem. 2012;12(22):2491-503. Review.

PMID:
23339303

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