Concepedia

Proliferative vasculopathy and hydranencephaly–hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism

Francesca Clementina Radio, Lavinia Di Meglio, Emanuele Agolini, Emanuele Bellacchio, Martina Rinelli, Paolo Toscano, Renata Boldrini, Antonio Novelli, Aniello Di Meglio, Bruno Dallapiccola

Molecular Genetics & Genomic Medicine · 2018 · 18 citations · 12 references

DOIFull text

Open access

Abstract

Our data suggest the hypothesis of heme deficiency as the major pathogenic mechanism of Fowler syndrome.

References

12

Template-based protein structure modeling using the RaptorX web server

Morten Källberg, Haipeng Wang, Sheng Wang et al. · Nature Protocols · 2012 · 1.6K citations · Full text

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Structure and Mechanism of the Glycerol-3-Phosphate Transporter from <i>Escherichia coli</i>

Yafei Huang, M. Joanne Lemieux, Jinmei Song et al. · Science · 2003 · 1K citations

The TOPCONS web server for consensus prediction of membrane protein topology and signal peptides

Konstantinos D. Tsirigos, Christoph Peters, Nanjiang Shu et al. · Nucleic Acids Research · 2015 · 962 citations · Full text

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Heme Deficiency Selectively Interrupts Assembly of Mitochondrial Complex IV in Human Fibroblasts

Hani Atamna, Jiankang Liu, Bruce N. Ames · Journal of Biological Chemistry · 2001 · 165 citations · Full text

The Fowler Syndrome-Associated Protein FLVCR2 Is an Importer of Heme

Simon P. Duffy, Jennifer C. Shing, Punit Saraon et al. · Molecular and Cellular Biology · 2010 · 130 citations · Full text

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