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Preiskorn, Joana [Author] ; Gärtner, Jutta [Degree supervisor]; Friede, Tim [Degree supervisor]

Systematisches Review und Metaanalyse publizierter Fallberichte zu Multipler Sulfatase Defizienz

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http://nbn-resolving.org/urn:nbn:de:gbv:7-ediss-14730-1

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Göttingen, 2023
Liang, Shaohui; Gao, Huixia; He, Tongxin; Li, Li; Zhang, Xin; Zhao, Lei; Chen, Jie; Xie, Yanyan; Bao, Jie; Gao, Yong; Dai, Erhei; Wang, Yuling

Association between SUMF1 polymorphisms and COVID-19 severity

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Springer Science and Business Media LLC, 2023

Published in: BMC Genomic Data
Reuschel, E; Suttner, S; Litzka, C; Keller-Wackerbauer, A; Wellmann, S; Melter, M; Hehr, U; Köninger, A

Fallvorstellung einer weltweit seltenen homozygoten Splicemutation in SUMF1

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Full access (via DOI)

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Georg Thieme Verlag, 2022

Published in: Geburtshilfe und Frauenheilkunde
Sorrentino, Nicolina Cristina; Presa, Maximiliano; Attanasio, Sergio; Cacace, Vincenzo; Sofia, Martina; Zuberi, Aamir; Ryan, Jennifer; Ray, Somdatta; Petkovic, Igor; Radhakrishnan, Karthikeyan; Schlotawa, Lars; Ballabio, Andrea; Lutz, Cathleen; Brunetti‐Pierri, Nicola

New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency

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Wiley, 2023

Published in: Journal of Inherited Metabolic Disease
Weidner, Julie; Jarenbäck, Linnea; de Jong, Kim; Vonk, Judith M.; van den Berge, Maarten; Brandsma, Corry-Anke; Boezen, H. Marike; Sin, Don; Bossé, Yohan; Nickle, David; Ankerst, Jaro; Bjermer, Leif; Postma, Dirkje S.; Faiz, Alen; Tufvesson, Ellen

Sulfatase modifying factor 1 (SUMF1) is associated with Chronic Obstructive Pulmonary Disease

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Springer Science and Business Media LLC, 2017

Published in: Respiratory Research
Udhaya H Kotecha; Sireesha Movva; Deepak Sharma; Jyotsna Verma; Ratna Dua Puri; Ishwar Chander Verma

Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene

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2014

Published in: Indian Journal of Medical Research
Iwaki, A; Kawano, Y; Miura, S; Shibata, H; Matsuse, D; Li, W; Furuya, H; Ohyagi, Y; Taniwaki, T; Kira, J; Fukumaki, Y

Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16

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BMJ, 2007

Published in: Journal of Medical Genetics
Annunziata, Ida; Bouchè, Valentina; Lombardi, Alessia; Settembre, Carmine; Ballabio, Andrea

Multiple sulfatase deficiency is due to hypomorphic mutations of theSUMF1 gene

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Hindawi Limited, 2007

Published in: Human Mutation
Cosma, Maria Pia; Pepe, Stefano; Parenti, Giancarlo; Settembre, Carmine; Annunziata, Ida; Wade-Martins, Richard; Domenico, Carmela Di; Natale, Paola Di; Mankad, Anuj; Cox, Barbara; Uziel, Graziella; Mancini, Grazia M.S.; Zammarchi, Enrico; Donati, Maria Alice; Kleijer, Wim J.; Filocamo, Mirella; Carrozzo, Romeo; Carella, Massimo; Ballabio, Andrea

Molecular and functional analysis ofSUMF1 mutations in multiple sulfatase deficiency

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Hindawi Limited, 2004

Published in: Human Mutation
Zhang, Long; Zhou, Zhiran; Cai, Fan; Qin, Wanli; Liu, Li; Kuerban, Guli; Jin, Lin; Ma, Xiaoli

Functions of the sulfatase‐modifying factor 1 (HaSumf1) in the development and host glucosinolate adaptation of Helicoverpa armigera

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Wiley, 2024

Published in: Journal of Applied Entomology
Zhang, Ping; Liu, Zhao; Wang, Yu-Yu; Luo, Hui-Jiu; Yang, Chao-Zhi; Shen, Hao; Wu, Hai-Tao; Li, Ju-Hang; Zhao, Hong-Xin; Ran, Qi-Shan

SUMF1 overexpression promotes tumorous cell growth and migration and is correlated with the immune status of patients with glioma

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Impact Journals, LLC, 2024

Published in: Aging
Zhang, Jingjing; Ma, Dingyuan; Liu, Gang; Zeng, Huasha; Wang, Yuguo; Luo, Chunyu; Hu, Ping; Xu, Zhengfeng

Genetic analysis of a novel SUMF1 variation associated with a late infantile form of multiple sulfatase deficiency

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Wiley, 2022

Published in: Journal of Clinical Laboratory Analysis
Shokoufeh Khanzadeh; meisam babaei; Parvin Imanpour; Shahram Sadeghvand

Natural Disease History and Characterization of SUMF1 Molecular Defects in Multiple Sulfatase Deficiency: a Case Report

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2021

Published in: International Journal of Pediatrics
Sabourdy, Frédérique; Mourey, Lionel; Le Trionnaire, Emmanuelle; Bednarek, Nathalie; Caillaud, Catherine; Chaix, Yves; Delrue, Marie-Ange; Dusser, Anne; Froissart, Roseline; Garnotel, Roselyne; Guffon, Nathalie; Megarbane, André; Ogier de Baulny, Hélène; Pédespan, Jean-Michel; Pichard, Samia; Valayannopoulos, Vassili; Verloes, Alain; Levade, Thierry

Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

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Springer Science and Business Media LLC, 2015

Published in: Orphanet Journal of Rare Diseases
Sakuma, Tetsushi; Ohnishi, Kazuya; Fujita, Kazumasa; Ochiai, Hiroshi; Sakamoto, Naoaki; Yamamoto, Takashi

HpSumf1 is involved in the activation of sulfatases responsible for regulation of skeletogenesis during sea urchin development

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Springer Science and Business Media LLC, 2011

Published in: Development Genes and Evolution
Schlotawa, Lars; Ennemann, Eva Charlotte; Radhakrishnan, Karthikeyan; Schmidt, Bernhard; Chakrapani, Anupam; Christen, Hans-Jürgen; Moser, Hugo; Steinmann, Beat; Dierks, Thomas; Gärtner, Jutta

SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency

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Springer Science and Business Media LLC, 2011

Published in: European Journal of Human Genetics
Alméciga-Díaz, Carlos J.; Rueda-Paramo, Maria A.; Espejo, Angela J.; Echeverri, Olga Y.; Montaño, Adriana; Tomatsu, Shunji; Barrera, Luis A.

Effect of elongation factor 1α promoter and SUMF1 over in vitro expression of N-acetylgalactosamine-6-sulfate sulfatase

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Springer Science and Business Media LLC, 2009

Published in: Molecular Biology Reports
Sheth, Jayesh; Shah, Siddharth; Datar, Chaitanya; Bhatt, Kaveri; Raval, Pooja; Nair, Aadhira; Jain, Deepika; Shah, Jhanvi; Sheth, Frenny; Sheth, Harsh

Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review

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Springer Science and Business Media LLC, 2023

Published in: BMC Pediatrics
Staretz‐Chacham, Orna; Schlotawa, Lars; Wormser, Ohad; Golan‐Tripto, Inbal; Birk, Ohad S.; Ferreira, Carlos R.; Dierks, Thomas; Radhakrishnan, Karthikeyan

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency

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Wiley, 2020

Published in: Molecular Genetics & Genomic Medicine
Schlotawa, Lars; Steinfeld, Robert; Figura, Kurt von; Dierks, Thomas; Gärtner, Jutta

Molecular analysis ofSUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency

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Hindawi Limited, 2008

Published in: Human Mutation

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