ICLD

Publikationen

2013

The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS)
Jones SA, Parini R, Harmatz P, Giugliani R, Fang J, Mendelsohn NJ; HOS Natural History Working Group on behalf of HOS Investigators. Mol Genet Metab 2013;109:41-8.

Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy
Kohlschütter A. Handb Clin Neurol 2013;113:1611-8.

NCL diseases - clinical perspectives
Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R. Biochim Biophys Acta 2013; Apr 17.

Cell biology and function of neuronal ceroid lipofuscinosis-related proteins
Kollmann K, Uusi-Rauva K, Scifo E, Tyynelä J, Jalanko A, Braulke T. Biochim Biophys Acta 2013 Feb 9.

Transport of the GlcNAc-1-phosphotransferase α/β-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif
Franke M, Braulke T, Storch S. J Biol Chem 2013;288:1238-49.

2012

Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7
Steenhuis P, Froemming J, Reinheckel T, Storch S. Biochim Biophys Acta;1822:1617-28.

A Novel Mannose 6-phosphate Specific Antibody Fragment for Diagnosis of Mucolipidosis type II and III (Book Chapter)
Pohl S, Braulke T, Müller-Loennies S (2012) In: Anticarbohydrate antibodies - From molecular basis to clinical application (Eds: P. Kosma, S. Müller-Loennies), Springer-Verlag, Wien, 307-327.

Multiple Enzyme Deficiencies: Defects in transport: Mucolipidosis II alpha/beta; mucolipidosis III alpha/beta and mucolipidosis III gamma (Book chapter)
Raas-Rothschild A, Pohl S, Braulke T (2012) In: Lysosomal Storage Diseases: A Practical Guide (Eds. A. B. Mehta, B. Winchester), WILEY-BLACKWELL, Oxford

High expression of disease-related Cln6 in the cerebral cortex, purkinje cells, dentate gyrus, and hippocampal ca1 neurons
Thelen M, Fehr S, Schweizer M, Braulke T, Galliciotti G. J Neurosci Res 2012;90:568-74.

Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice
Kollmann K, Damme M, Markmann S, Morelle W, Schweizer M, Hermans-Borgmeyer I, Röchert AK, Pohl S, Lübke T, Michalski JC, Käkelä R, Walkley SU, Braulke T. Brain 2012;135:2661-75.

Disruption of the autophagy-lysosome pathway is involved in neuropathology of the nclf mouse model of neuronal ceroid lipofuscinosis
Thelen M, Damme M, Schweizer M, Hagel C, Wong AM, Cooper JD, Braulke T, Galliciotti G. PLoS One 2012;7:e35493.

Mannose 6 dephosphorylation of lysosomal proteins mediated by acid phosphatases Acp2 and Acp5
Makrypidi G, Damme M, Müller-Loennies S, Trusch M, Schmidt B, Schlüter H, Heeren J, Lübke T, Saftig P, Braulke T. Mol Cell Biol 2012;32:774-82.

"Pelizaeus-Merzbacher-like disease" presenting as complicated hereditary spastic paraplegiaZittel S, Nickel M, Wolf NI, Uyanik G, Gläser D, Ganos C, Gerloff C, Münchau A, Kohlschütter A. J Neurol 2012;259:2498-500.

Long-term neuroimaging follow-up on an asymptomatic juvenile metachromatic leukodystrophy patient after hematopoietic stem cell transplantation: evidence of myelin recovery and ongoing brain maturation
Ding XQ, Bley A, Kohlschütter A, Fiehler J, Lanfermann H. Am J Med Genet A 2012;158A:257-60.

2011

Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease
Lebrun AH, Moll-Khosrawi P, Pohl S, Makrypidi G, Storch S, Kilian D, Streichert T, Otto B, Mole SE, Ullrich K, Cotman S, Kohlschütter A, Braulke T, Schulz A. Mol Med 2011;17:1253-61.

A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism
Marschner K, Kollmann K, Schweizer M, Braulke T, Pohl S. Science 2011;333:87-90.

Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome
Muschol N, Pohl S, Meyer A, Gal A, Ullrich K, Braulke T. Am J Med Genet A 2011;155A:1634-9.

Childhood leukodystrophies: a clinical perspective
Kohlschütter A, Eichler F. Expert Rev Neurother 2011;11:1485-96.

Post-translational modifications of the gamma-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase
Encarnação M, Kollmann K, Trusch M, Braulke T, Pohl S. J Biol Chem 2011;286:5311-8.

Natural history of infantile G(M2) gangliosidosis
Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, Eichler FS. Pediatrics 2011;128:e1233-41.

Evaluating experimental treatment of leukodystrophies
Kohlschütter A. Dev Med Child Neurol 2011;53:781.

Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course
Groeschel S, Kehrer C, Engel C, I Dali C, Bley A, Steinfeld R, Grodd W, Krägeloh-Mann I. J Inherit Metab Dis 2011;34:1095-102.

Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a perspective from the Hunter Outcome Survey (HOS)
Burton BK, Whiteman DA; HOS Investigators. Mol Genet Metab 2011;103:113-20.