Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice

K. Kollmann, M. Damme, S. Markmann, W. Morelle, M. Schweizer, I. Hermans-Borgmeyer, A. K. Röchert, S. Pohl, T. Luebke, J-C Michalski, R. Käkelä, S. U. Walkley, T. Braulke

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalBrain : a journal of neurology
Volume135
Issue number9
Pages (from-to)2661-2675
Number of pages15
ISSN0006-8950
DOIs
Publication statusPublished - Sep 2012
MoE publication typeA1 Journal article-refereed

Fields of Science

  • mucolipidosis
  • lysosomal storage disease
  • trafficking of lysosomal proteins
  • ganglioside
  • impaired autophagy
  • ENZYME REPLACEMENT THERAPY
  • UDP-N-ACETYLGLUCOSAMINE
  • PSEUDO-HURLER POLYDYSTROPHY
  • ALPHA-MANNOSIDOSIS MICE
  • CELL DISEASE
  • HUMAN FIBROBLASTS
  • ANIMAL-MODEL
  • PATHOLOGY
  • PROTEINS
  • RECEPTOR
  • 1182 Biochemistry, cell and molecular biology
  • 3112 Neurosciences

Cite this

Kollmann, K., Damme, M., Markmann, S., Morelle, W., Schweizer, M., Hermans-Borgmeyer, I., ... Braulke, T. (2012). Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice. Brain : a journal of neurology, 135(9), 2661-2675. https://doi.org/10.1093/brain/aws209
Kollmann, K. ; Damme, M. ; Markmann, S. ; Morelle, W. ; Schweizer, M. ; Hermans-Borgmeyer, I. ; Röchert, A. K. ; Pohl, S. ; Luebke, T. ; Michalski, J-C ; Käkelä, R. ; Walkley, S. U. ; Braulke, T. / Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice. In: Brain : a journal of neurology. 2012 ; Vol. 135, No. 9. pp. 2661-2675.
@article{5e1d1094e75844eaa1424c26642b6e51,
title = "Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice",
keywords = "mucolipidosis, lysosomal storage disease, trafficking of lysosomal proteins, ganglioside, impaired autophagy, ENZYME REPLACEMENT THERAPY, UDP-N-ACETYLGLUCOSAMINE, PSEUDO-HURLER POLYDYSTROPHY, ALPHA-MANNOSIDOSIS MICE, CELL DISEASE, HUMAN FIBROBLASTS, ANIMAL-MODEL, PATHOLOGY, PROTEINS, RECEPTOR, 1182 Biochemistry, cell and molecular biology, 3112 Neurosciences",
author = "K. Kollmann and M. Damme and S. Markmann and W. Morelle and M. Schweizer and I. Hermans-Borgmeyer and R{\"o}chert, {A. K.} and S. Pohl and T. Luebke and J-C Michalski and R. K{\"a}kel{\"a} and Walkley, {S. U.} and T. Braulke",
year = "2012",
month = "9",
doi = "10.1093/brain/aws209",
language = "English",
volume = "135",
pages = "2661--2675",
journal = "Brain : a journal of neurology",
issn = "0006-8950",
publisher = "Oxford University Press",
number = "9",

}

Kollmann, K, Damme, M, Markmann, S, Morelle, W, Schweizer, M, Hermans-Borgmeyer, I, Röchert, AK, Pohl, S, Luebke, T, Michalski, J-C, Käkelä, R, Walkley, SU & Braulke, T 2012, 'Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice', Brain : a journal of neurology, vol. 135, no. 9, pp. 2661-2675. https://doi.org/10.1093/brain/aws209

Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice. / Kollmann, K.; Damme, M.; Markmann, S.; Morelle, W.; Schweizer, M.; Hermans-Borgmeyer, I.; Röchert, A. K.; Pohl, S.; Luebke, T.; Michalski, J-C; Käkelä, R.; Walkley, S. U.; Braulke, T.

In: Brain : a journal of neurology, Vol. 135, No. 9, 09.2012, p. 2661-2675.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice

AU - Kollmann, K.

AU - Damme, M.

AU - Markmann, S.

AU - Morelle, W.

AU - Schweizer, M.

AU - Hermans-Borgmeyer, I.

AU - Röchert, A. K.

AU - Pohl, S.

AU - Luebke, T.

AU - Michalski, J-C

AU - Käkelä, R.

AU - Walkley, S. U.

AU - Braulke, T.

PY - 2012/9

Y1 - 2012/9

KW - mucolipidosis

KW - lysosomal storage disease

KW - trafficking of lysosomal proteins

KW - ganglioside

KW - impaired autophagy

KW - ENZYME REPLACEMENT THERAPY

KW - UDP-N-ACETYLGLUCOSAMINE

KW - PSEUDO-HURLER POLYDYSTROPHY

KW - ALPHA-MANNOSIDOSIS MICE

KW - CELL DISEASE

KW - HUMAN FIBROBLASTS

KW - ANIMAL-MODEL

KW - PATHOLOGY

KW - PROTEINS

KW - RECEPTOR

KW - 1182 Biochemistry, cell and molecular biology

KW - 3112 Neurosciences

U2 - 10.1093/brain/aws209

DO - 10.1093/brain/aws209

M3 - Article

VL - 135

SP - 2661

EP - 2675

JO - Brain : a journal of neurology

JF - Brain : a journal of neurology

SN - 0006-8950

IS - 9

ER -

Kollmann K, Damme M, Markmann S, Morelle W, Schweizer M, Hermans-Borgmeyer I et al. Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice. Brain : a journal of neurology. 2012 Sep;135(9):2661-2675. https://doi.org/10.1093/brain/aws209