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Items: 1 to 20 of 96

1.

A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.

Balreira A, Gaspar P, Caiola D, Chaves J, Beirão I, Lima JL, Azevedo JE, Miranda MC.

Hum Mol Genet. 2008 Jul 15;17(14):2238-43. doi: 10.1093/hmg/ddn124. Epub 2008 Apr 17.

PMID:
18424452
2.

Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase.

Blanz J, Groth J, Zachos C, Wehling C, Saftig P, Schwake M.

Hum Mol Genet. 2010 Feb 15;19(4):563-72. doi: 10.1093/hmg/ddp523. Epub 2009 Nov 20.

PMID:
19933215
3.

A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity.

Zeigler M, Meiner V, Newman JP, Steiner-Birmanns B, Bargal R, Sury V, Mengistu G, Kakhlon O, Leykin I, Argov Z, Abramsky O, Lossos A.

J Neurol Sci. 2014 Apr 15;339(1-2):210-3. doi: 10.1016/j.jns.2014.01.022. Epub 2014 Jan 23.

PMID:
24485911
4.

Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings.

Chaves J, Beirão I, Balreira A, Gaspar P, Caiola D, Sá-Miranda MC, Lima JL.

Seizure. 2011 Nov;20(9):738-40. doi: 10.1016/j.seizure.2011.06.018. Epub 2011 Jul 22.

5.

A critical histidine residue within LIMP-2 mediates pH sensitive binding to its ligand β-glucocerebrosidase.

Zachos C, Blanz J, Saftig P, Schwake M.

Traffic. 2012 Aug;13(8):1113-23. doi: 10.1111/j.1600-0854.2012.01372.x. Epub 2012 May 15.

6.

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.

Hopfner F, Schormair B, Knauf F, Berthele A, Tölle TR, Baron R, Maier C, Treede RD, Binder A, Sommer C, Maihöfner C, Kunz W, Zimprich F, Heemann U, Pfeufer A, Näbauer M, Kääb S, Nowak B, Gieger C, Lichtner P, Trenkwalder C, Oexle K, Winkelmann J.

BMC Neurol. 2011 Oct 27;11:134. doi: 10.1186/1471-2377-11-134.

7.

Lysosomal integral membrane protein-2: a new player in lysosome-related pathology.

Gonzalez A, Valeiras M, Sidransky E, Tayebi N.

Mol Genet Metab. 2014 Feb;111(2):84-91. doi: 10.1016/j.ymgme.2013.12.005. Epub 2013 Dec 11. Review.

8.

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.

Dibbens LM, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, Canafoglia L, Wallace R, Bassuk AG, Power DA, Tassinari CA, Andermann E, Lehesjoki AE, Berkovic SF.

Ann Neurol. 2009 Oct;66(4):532-6. doi: 10.1002/ana.21765.

PMID:
19847901
9.

Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.

Dardis A, Filocamo M, Grossi S, Ciana G, Franceschetti S, Dominissini S, Rubboli G, Di Rocco M, Bembi B.

Mol Genet Metab. 2009 Aug;97(4):309-11. doi: 10.1016/j.ymgme.2009.04.011. Epub 2009 May 3.

PMID:
19454373
10.

Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.

Dibbens LM, Karakis I, Bayly MA, Costello DJ, Cole AJ, Berkovic SF.

Arch Neurol. 2011 Jun;68(6):812-3. doi: 10.1001/archneurol.2011.120.

PMID:
21670406
11.

Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations.

Fu YJ, Aida I, Tada M, Tada M, Toyoshima Y, Takeda S, Nakajima T, Naito H, Nishizawa M, Onodera O, Kakita A, Takahashi H.

Neuropathol Appl Neurobiol. 2014 Aug;40(5):551-63. doi: 10.1111/nan.12057.

PMID:
23659519
12.

Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.

Rubboli G, Franceschetti S, Berkovic SF, Canafoglia L, Gambardella A, Dibbens LM, Riguzzi P, Campieri C, Magaudda A, Tassinari CA, Michelucci R.

Epilepsia. 2011 Dec;52(12):2356-63. doi: 10.1111/j.1528-1167.2011.03307.x. Epub 2011 Nov 2.

13.

Role of LIMP-2 in the intracellular trafficking of β-glucosidase in different human cellular models.

Malini E, Zampieri S, Deganuto M, Romanello M, Sechi A, Bembi B, Dardis A.

FASEB J. 2015 Sep;29(9):3839-52. doi: 10.1096/fj.15-271148. Epub 2015 May 27.

14.

A mutation in SCARB2 is a modifier in Gaucher disease.

Velayati A, DePaolo J, Gupta N, Choi JH, Moaven N, Westbroek W, Goker-Alpan O, Goldin E, Stubblefield BK, Kolodny E, Tayebi N, Sidransky E.

Hum Mutat. 2011 Nov;32(11):1232-8. doi: 10.1002/humu.21566. Epub 2011 Sep 15.

15.

LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase.

Reczek D, Schwake M, Schröder J, Hughes H, Blanz J, Jin X, Brondyk W, Van Patten S, Edmunds T, Saftig P.

Cell. 2007 Nov 16;131(4):770-83.

16.

A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2.

Perandones C, Micheli FE, Pellene LA, Bayly MA, Berkovic SF, Dibbens LM.

Mov Disord. 2012 Aug;27(9):1200-1. doi: 10.1002/mds.25083. Epub 2012 Jul 5. No abstract available.

PMID:
22767442
17.

A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.

Higashiyama Y, Doi H, Wakabayashi M, Tsurusaki Y, Miyake N, Saitsu H, Ohba C, Fukai R, Miyatake S, Joki H, Koyano S, Suzuki Y, Tanaka F, Kuroiwa Y, Matsumoto N.

Mov Disord. 2013 Apr;28(4):552-3. doi: 10.1002/mds.25296. Epub 2013 Jan 16. No abstract available.

PMID:
23325613
18.

A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.

Guerrero-López R, García-Ruiz PJ, Giráldez BG, Durán-Herrera C, Querol-Pascual MR, Ramírez-Moreno JM, Más S, Serratosa JM.

Mov Disord. 2012 Dec;27(14):1826-7. doi: 10.1002/mds.25114. Epub 2012 Dec 5. No abstract available.

PMID:
23225201
19.

A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.

Perandones C, Pellene LA, Micheli F.

Mov Disord. 2014 Jan;29(1):158-9. doi: 10.1002/mds.25738. Epub 2013 Dec 11. No abstract available.

PMID:
24339182
20.

Tubular proteinuria in mice and humans lacking the intrinsic lysosomal protein SCARB2/Limp-2.

Desmond MJ, Lee D, Fraser SA, Katerelos M, Gleich K, Martinello P, Li YQ, Thomas MC, Michelucci R, Cole AJ, Saftig P, Schwake M, Stapleton D, Berkovic SF, Power DA.

Am J Physiol Renal Physiol. 2011 Jun;300(6):F1437-47. doi: 10.1152/ajprenal.00015.2011. Epub 2011 Mar 23.

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