Max Planck Institute for Molecular Genetics - Ihnestraße 63-73 - 14195 Berlin - Germany - Phone: (+49 30) 8413 0 - Fax: (+49 30) 8413 1394
Max Planck Institute for Molecular Genetics - Ihnestraße 63-73 - 14195 Berlin - Germany - Phone: (+49 30) 8413 0 - Fax: (+49 30) 8413 1394
 [back to Human Molecular Genetics]Human Molecular Genetics Biochemistry of Inherited Brain Disorders

Biochemistry of Inherited Brain Disorders

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For patients & clinicians

Publications
Publications

Aranda-Orgilles B., Krause S., Roepcke S., Jastrzebska E., Stahl J., Wanker E., Schneider R., Schweiger S. The Opitz syndrome geneproduct, MID1, links mTOR with active polyribosomes and associates with G-quartet motifs in the mRNA of ephrin genes. Manuscript submitted

Krauß S., Haesler S., Suckow V., Winter J., Aranda B., Grzeschik K.H., Wessling M., Foerster J., Ropers H.H., Schneider R., Schweiger S. The MID1/PP2A complex and GSK3 regulate nuclear export of Gli3: implications for syndromes affecting the ventral midline. Manuscript submitted

Shoichet SA., Duprez L., Hagens O., Waetzig V., Menzel C., Herdegen T., Schweiger S., Dan B., Vamos E., Ropers HH., Kalscheuer VM. (2006) Truncation of the CNSexpressed JNK3 in a patient with a severe developmental epileptic encephalopathy. Hum. Genet. 118: 559-567

Hagens O., Minina E., Schweiger S., Ropers HH., Kalscheuer V. (2006) Characterization of FBX25, encoding a novel brain-expressed F-box protein. Biochim. Biophys. Acta. 1760: 110-118

Wieland I., Reardon W., Jakubicska S., Franco B., Kress W., Vincent-Delorme C., Thierry P., Edwards M., Konig R., Rusu C., Schweiger S., Thompson E., Tinschert S., Stewart F., Wieacker P. (2005) Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome. Hum. Mutat. 26: 113-118

So J., Suckow V., Kijas Z., Kalscheuer V., Moser B., Baars M., Firth H., Lunt P., Hamel B., Moraine C., Odent S., Schinzel A., van der Smagt J.J., Devriendt K., Passarge E., van der Burgt I., Cox T., Opitz J., Ropers H.H. & Schweiger S. (2005) Mild phenotypic spectrum in a series of Opitz BBB/G syndrome patients with MID1 mutations. Am. J. Med. Genet. 132A:1-7

Kalscheuer VM, Freude K, Musante L*, Jensen LR*, Yntema HG, Gécz J, Sefiani A, Hoffmann K, Moser B, Haas S, Gurok U,Haesler S, Aranda B, Nshedjan A, Tzschach A, Hartmann N, Roloff TC, Shoichet S, Hagens O, Tao J, van Bokhoven H, Turner G, Chelly J, Moraine C, Fryns JP, Nuber U, Hoeltzenbein M, Scharff C, Scherthan H, Lenzner S, Hamel BCJ, Schweiger S & Ropers HH (2003) Mutations in the polyglutamine-binding protein 1 gene cause X-linked mental retardation. Nature genetics 35 (4): 313-5

Foerster J., Nolte I., Ehlert C., Bruinenberg M., Spaar K., van der Steege G., Muldre M., Kalscheuer V., Schweiger S., Moser B., Kijas Z., Seeman P., Ständer M., Sterry W. & te Meerman G. (2005) Interferon regulatory factor 2 is associated with type 1 psoriasis. J. Invest. Dermatol. 124: 99-102

Winter J., Lehmann T., Krauß S., Trockenbacher A., Kijas Z., Foerster J., Suckow V., Yaspo M.L., Kulozik A., Kalscheuer V., Ropers H.H., Schneider R., Schweiger S. (2004) Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing. Human Genetics 114:541-552

Schweiger S. and Schneider R. (2003) The MID1/PP2A complex: a key to the pathogenesis of Opitz BBB/G syndrome. Bioassays 25, 356 366. invited review

Zeitz C., Scherthan H., Freier S., Feil S., Suckow V., Schweiger S., Berger W. NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindnessencodes a cell surface protein. IOVD 44 (10): 4184-91

Musante L., Kehl H.G., Majewski F., Meinecke P., Schweiger S., Gillessen-Kaesbach G., Wieczoreck D., Hinkel G.K., Tinschert S., Hoeltzenbein M., Ropers H.H. (2002) Kalscheuer V.M. Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrom. EJHG 11, 201-206

Schweiger S., Chaoui R., Tennstedt C., Lehmann K., Mundlos S., Tinschert S. (2003) Antenatal onset of cortical hyperostosis (Caffey disease): Case report and review. Am. J. Med. Genet.: 120A(4) 547-52

Winter J.*, Lehmann T.*, Suckow V., Kijas Z., Kulozic A., Hamel B., Opitz J., Lenzner S., Ropers HH., Schweiger S. (2003) Duplication of exon 1 of the MID1 gene in a patient with Opitz G/BBB syndrome. Hum. Genet. 112, 249-254

Raderschall E., Stout K., Freier S., Suckow V., Schweiger S., Haaf T. Elevated levels of Rad51 Recombination Protein in Tumor Cells. Cancer Research 69, 219-225

Trockenbacher A., Suckow V., Foerster J., Winter J., Krauß S., Ropers HH., Schneider R., Schweiger S. (2001) MID1, mutated in Opitz syndrome encodes an ubiquitin ligase that targets phosphatase 2A for degradation. Nature genetics 29, 287-294

Scheer MP., van der Maarel S., Kubart S., Schulz A., Wirth J., Schweiger S., Ropers H., Nothwang HG. (2000) DXS6673E encodes a predominantly nuclear protein, and its mouse ortholog DXHXS6673E is alternatively spliced in a developmental- and tissuespecific manner. Genomics 63, 123-132.

Schweiger S., Foerster J., Lehmenn T., Suckow V., Muller Y.A., Walter G., Davies T., Porter H., van Bokhoven H., Lunt P.W., Traub P., Ropers H.H. (1999) The Opitz syndrome gene product, MID1, associates with microtubules. Proc. Natl. Acad. Sci USA 96, 2794-2799

Rinderle C., Christensen H.-M., Schweiger S., Lehrach H., Yaspo M.-L. (1999) AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: altered sub-cellular distribution of mutants lacking the PHD zinc fingers. Hum. Mol. Genet. 8 (2), 277-290

Vonrhein C., Schmidt U., Ziegler G.A., Schweiger S., Hanukoglu I., Schulz G.E. (1999) Chaperone-assisted expression of authentic bovine adrenodoxin reductase in Echerichia coli. FEBS Letters 443, 167-169

Suckow V., Fartmann B., Todt T., van der Maarel S., Foerster J., Schweiger S. (1998) A rapid and inexpensive method for large-scale DNA sequencing of regions with large amounts of repetitive elements. TIGS, TTO 01332

Quaderi N., Schweiger S., Gaudenz K., Franco B., Rugarli E.I., Berger W., Feldmann G.J., Volta M., Andolfi G., Gilgenkrantz S., Marion R.W., Hennekam R.C.M., Opitz J.M., Muenke M., Ropers H.H., Ballabio A. (1997) Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nature genetics 17, 285- 291



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