PUB - Publikationen an der Universität Bielefeld

The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations.
Rosenberg T, Haim M, Hauch AM, Parving A., Clin. Genet. 51(5), 1997
PMID: 9212179

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.
Kimberling WJ, Hildebrand MS, Shearer AE, Jensen ML, Halder JA, Trzupek K, Cohn ES, Weleber RG, Stone EM, Smith RJ., Genet. Med. 12(8), 2010
PMID: 20613545

A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.
Khateb S, Zelinger L, Mizrahi-Meissonnier L, Ayuso C, Koenekoop RK, Laxer U, Gross M, Banin E, Sharon D., J. Med. Genet. 51(7), 2014
PMID: 24780881

A frameshift mutation in SANS results in atypical Usher syndrome.
Bashir R, Fatima A, Naz S., Clin. Genet. 78(6), 2010
PMID: 21044053

Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome.
Liu XZ, Hope C, Walsh J, Newton V, Ke XM, Liang CY, Xu LR, Zhou JM, Trump D, Steel KP, Bundey S, Brown SD., Am. J. Hum. Genet. 63(3), 1998
PMID: 9718356

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
Pierrache LHM, Kimchi A, Ratnapriya R, Roberts L, Astuti GDN, Obolensky A, Beryozkin A, Tjon-Fo-Sang MJH, Schuil J, Klaver CCW, Bongers EMHF, Haer-Wigman L, Schalij N, Breuning MH, Fischer GM, Banin E, Ramesar RS, Swaroop A, van den Born LI, Sharon D, Cremers FPM., Ophthalmology 124(7), 2017
PMID: 28412069

Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.
Gong B, Wei B, Huang L, Hao J, Li X, Yang Y, Zhou Y, Hao F, Cui Z, Zhang D, Wang L, Zhang H., J Ophthalmol 2015(), 2015
PMID: 26124963

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
Nishiguchi KM, Tearle RG, Liu YP, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma TR, Beckmann JS, Ikegawa S, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C., Proc. Natl. Acad. Sci. U.S.A. 110(40), 2013
PMID: 24043777

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium, Webster AR, Raymond FL, Aitman T, Alachkar H, Ali S, Allen L, Allsup D, Ambegaonkar G, Anderson J, Antrobus R, Armstrong R, Arno G, Arumugakani G, Ashford S, Astle W, Attwood A, Austin S, Bacchelli C, Bakchoul T, Bariana TK, Baxendale H, Bennett D, Bethune C, Bibi S, Bitner-Glindzicz M, Bleda M, Boggard H, Bolton-Maggs P, Booth C, Bradley JR, Brady A, Brown M, Browning M, Bryson C, Burns S, Calleja P, Canham N, Carmichael J, Carss K, Caulfield M, Chalmers E, Chandra A, Chinnery P, Chitre M, Church C, Clement E, Clements-Brod N, Clowes V, Coghlan G, Collins P, Cooper N, Creaser-Myers A, DaCosta R, Daugherty L, Davies S, Davis J, De Vries M, Deegan P, Deevi SVV, Deshpande C, Devlin L, Dewhurst E, Doffinger R, Dormand N, Drewe E, Edgar D, Egner W, Erber WN, Erwood M, Everington T, Favier R, Firth H, Fletcher D, Flinter F, Fox JC, Frary A, Freson K, Furie B, Furnell A, Gale D, Gardham A, Gattens M, Ghali N, Ghataorhe PK, Ghurye R, Gibbs S, Gilmour K, Gissen P, Goddard S, Gomez K, Gordins P, Graf S, Greene D, Greenhalgh A, Greinacher A, Grigoriadou S, Grozeva D, Hackett S, Hadinnapola C, Hague R, Haimel M, Halmagyi C, Hammerton T, Hart D, Hayman G, Heemskerk JWM, Henderson R, Hensiek A, Henskens Y, Herwadkar A, Holden S, Holder M, Holder S, Hu F, Huissoon A, Humbert M, Hurst J, James R, Jolles S, Josifova D, Kazmi R, Keeling D, Kelleher P, Kelly AM, Kennedy F, Kiely D, Kingston N, Koziell A, Krishnakumar D, Kuijpers TW, Kumararatne D, Kurian M, Laffan MA, Lambert MP, Allen HL, Lawrie A, Lear S, Lees M, Lentaigne C, Liesner R, Linger R, Longhurst H, Lorenzo L, Machado R, Mackenzie R, MacLaren R, Maher E, Maimaris J, Mangles S, Manson A, Mapeta R, Markus HS, Martin J, Masati L, Mathias M, Matser V, Maw A, McDermott E, McJannet C, Meacham S, Meehan S, Megy K, Mehta S, Michaelides M, Millar CM, Moledina S, Moore A, Morrell N, Mumford A, Murng S, Murphy E, Nejentsev S, Noorani S, Nurden P, Oksenhendler E, Ouwehand WH, Papadia S, Park SM, Parker A, Pasi J, Patch C, Paterson J, Payne J, Peacock A, Peerlinck K, Penkett CJ, Pepke-Zaba J, Perry DJ, Pollock V, Polwarth G, Ponsford M, Qasim W, Quinti I, Rankin S, Rankin J, Raymond FL, Rehnstrom K, Reid E, Rhodes CJ, Richards M, Richardson S, Richter A, Roberts I, Rondina M, Rosser E, Roughley C, Rue-Albrecht K, Samarghitean C, Sanchis-Juan A, Sandford R, Santra S, Sargur R, Savic S, Schulman S, Schulze H, Scott R, Scully M, Seneviratne S, Sewell C, Shamardina O, Shipley D, Simeoni I, Sivapalaratnam S, Smith K, Sohal A, Southgate L, Staines S, Staples E, Stauss H, Stein P, Stephens J, Stirrups K, Stock S, Suntharalingam J, Tait RC, Talks K, Tan Y, Thachil J, Thaventhiran J, Thomas E, Thomas M, Thompson D, Thrasher A, Tischkowitz M, Titterton C, Toh CH, Toshner M, Treacy C, Trembath R, Tuna S, Turek W, Turro E, Van Geet C, Veltman M, Vogt J, von Ziegenweldt J, Vonk Noordegraaf A, Wakeling E, Wanjiku I, Warner TQ, Wassmer E, Watkins H, Webster A, Welch S, Westbury S, Wharton J, Whitehorn D, Wilkins M, Willcocks L, Williamson C, Woods G, Wort J, Yeatman N, Yong P, Young T, Yu P., Am. J. Hum. Genet. 100(1), 2016
PMID: 28041643

Usher syndrome: molecular links of pathogenesis, proteins and pathways.
Kremer H, van Wijk E, Marker T, Wolfrum U, Roepman R., Hum. Mol. Genet. 15 Spec No 2(), 2006
PMID: 16987892

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.
Reiners J, Nagel-Wolfrum K, Jurgens K, Marker T, Wolfrum U., Exp. Eye Res. 83(1), 2006
PMID: 16545802

The retinal phenotype of Usher syndrome: pathophysiological insights from animal models.
El-Amraoui A, Petit C., C. R. Biol. 337(3), 2014
PMID: 24702843

Centriole splitting caused by loss of the centrosomal linker protein C-NAP1 reduces centriolar satellite density and impedes centrosome amplification.
Flanagan AM, Stavenschi E, Basavaraju S, Gaboriau D, Hoey DA, Morrison CG., Mol. Biol. Cell 28(6), 2017
PMID: 28100636

Arylsulfatase G, a novel lysosomal sulfatase.
Frese MA, Schulz S, Dierks T., J. Biol. Chem. 283(17), 2008
PMID: 18283100

Molecular characterization of arylsulfatase G: expression, processing, glycosylation, transport, and activity.
Kowalewski B, Lubke T, Kollmann K, Braulke T, Reinheckel T, Dierks T, Damme M., J. Biol. Chem. 289(40), 2014
PMID: 25135642

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.
Beryozkin A, Shevah E, Kimchi A, Mizrahi-Meissonnier L, Khateb S, Ratnapriya R, Lazar CH, Blumenfeld A, Ben-Yosef T, Hemo Y, Pe'er J, Averbuch E, Sagi M, Boleda A, Gieser L, Zlotogorski A, Falik-Zaccai T, Alimi-Kasem O, Jacobson SG, Chowers I, Swaroop A, Banin E, Sharon D., Sci Rep 5(), 2015
PMID: 26306921

Molecular and biochemical characterisation of a novel sulphatase gene: Arylsulfatase G (ARSG).
Ferrante P, Messali S, Meroni G, Ballabio A., Eur. J. Hum. Genet. 10(12), 2002
PMID: 12461688

Amino acid residues forming the active site of arylsulfatase A. Role in catalytic activity and substrate binding.
Waldow A, Schmidt B, Dierks T, von Bulow R, von Figura K., J. Biol. Chem. 274(18), 1999
PMID: 10212197

Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.
Beesley CE, Young EP, Vellodi A, Winchester BG., J. Med. Genet. 37(9), 2000
PMID: 11182930

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
Morrone A, Tylee KL, Al-Sayed M, Brusius-Facchin AC, Caciotti A, Church HJ, Coll MJ, Davidson K, Fietz MJ, Gort L, Hegde M, Kubaski F, Lacerda L, Laranjeira F, Leistner-Segal S, Mooney S, Pajares S, Pollard L, Ribeiro I, Wang RY, Miller N., Mol. Genet. Metab. 112(2), 2014
PMID: 24726177

A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency.
Schmidt B, Selmer T, Ingendoh A, von Figura K., Cell 82(2), 1995
PMID: 7628016

1.3 A structure of arylsulfatase from Pseudomonas aeruginosa establishes the catalytic mechanism of sulfate ester cleavage in the sulfatase family.
Boltes I, Czapinska H, Kahnert A, von Bulow R, Dierks T, Schmidt B, von Figura K, Kertesz MA, Uson I., Structure 9(6), 2001
PMID: 11435113

Crystal structure of a covalent intermediate of endogenous human arylsulfatase A.
Chruszcz M, Laidler P, Monkiewicz M, Ortlund E, Lebioda L, Lewinski K., J. Inorg. Biochem. 96(2-3), 2003
PMID: 12888274

Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme.
Dierks T, Schmidt B, Borissenko LV, Peng J, Preusser A, Mariappan M, von Figura K., Cell 113(4), 2003
PMID: 12757705

Sequence determinants directing conversion of cysteine to formylglycine in eukaryotic sulfatases.
Dierks T, Lecca MR, Schlotterhose P, Schmidt B, von Figura K., EMBO J. 18(8), 1999
PMID: 10205163

Heparan N-sulfatase: cysteine 70 plays a role in the enzyme catalysis and processing.
Daniele A, Di Natale P., FEBS Lett. 505(3), 2001
PMID: 11576545

Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue.
Millat G, Froissart R, Maire I, Bozon D., Biochem. J. 326 ( Pt 1)(), 1997
PMID: 9337875

The abnormalities of lysosomal enzymes in mucopolysacc- haridoses.
Van Hoof F, Hers HG., Eur. J. Biochem. 7(1), 1968
PMID: 4236776

Common and uncommon pathogenic cascades in lysosomal storage diseases.
Vitner EB, Platt FM, Futerman AH., J. Biol. Chem. 285(27), 2010
PMID: 20430897

A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.
Abitbol M, Thibaud JL, Olby NJ, Hitte C, Puech JP, Maurer M, Pilot-Storck F, Hedan B, Dreano S, Brahimi S, Delattre D, Andre C, Gray F, Delisle F, Caillaud C, Bernex F, Panthier JJ, Aubin-Houzelstein G, Blot S, Tiret L., Proc. Natl. Acad. Sci. U.S.A. 107(33), 2010
PMID: 20679209

Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).
Kowalewski B, Heimann P, Ortkras T, Lullmann-Rauch R, Sawada T, Walkley SU, Dierks T, Damme M., Hum. Mol. Genet. 24(7), 2014
PMID: 25452429

Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice.
Kowalewski B, Lamanna WC, Lawrence R, Damme M, Stroobants S, Padva M, Kalus I, Frese MA, Lubke T, Lullmann-Rauch R, D'Hooge R, Esko JD, Dierks T., Proc. Natl. Acad. Sci. U.S.A. 109(26), 2012
PMID: 22689975

Degeneration of Photoreceptor Cells in Arylsulfatase G-Deficient Mice.
Kruszewski K, Lullmann-Rauch R, Dierks T, Bartsch U, Damme M., Invest. Ophthalmol. Vis. Sci. 57(3), 2016
PMID: 26975023

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA, Elleder M, Mole SE, Lehesjoki AE., Brain 132(Pt 3), 2009
PMID: 19201763

AUTHOR UNKNOWN, 0

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.
Khan KN, El-Asrag ME, Ku CA, Holder GE, McKibbin M, Arno G, Poulter JA, Carss K, Bommireddy T, Bagheri S, Bakall B, Scholl HP, Raymond FL, Toomes C, Inglehearn CF, Pennesi ME, Moore AT, Michaelides M, Webster AR, Ali M; for NIHR BioResource-Rare Diseases and UK Inherited Retinal Disease Consortium., Invest. Ophthalmol. Vis. Sci. 58(7), 2017
PMID: 28586915

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.
Roosing S, van den Born LI, Sangermano R, Banfi S, Koenekoop RK, Zonneveld-Vrieling MN, Klaver CC, van Lith-Verhoeven JJ, Cremers FP, den Hollander AI, Hoyng CB., Ophthalmology 122(1), 2014
PMID: 25227500

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
Haer-Wigman L, Newman H, Leibu R, Bax NM, Baris HN, Rizel L, Banin E, Massarweh A, Roosing S, Lefeber DJ, Zonneveld-Vrieling MN, Isakov O, Shomron N, Sharon D, Den Hollander AI, Hoyng CB, Cremers FP, Ben-Yosef T., Hum. Mol. Genet. 24(13), 2015
PMID: 25859010

AUTHOR UNKNOWN, 0