Rare Diseases, Volume 4, Issue 1 (2016)

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Rare Diseases, Volume 4, Issue 1 (2016)

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Volume 4, 2016 Vol 3, 2015 Vol 2, 2014 Vol 1, 2013
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Mini-Review

Review
Orotate phosphoribosyltransferase is overexpressed in malignant pleural mesothelioma: Dramatically responds one case in high OPRT expression
Yoichiro Hamamoto, Shinjiro Takeoka, Atsuto Mouri, Munehisa Fukusumi, Kazushige Wakuda, Tatsuya Ibe, Chie Honma, Yoshihito Arimoto, Kazuaki Yamada, Miyuki Wagatsuma, Akito Tashiro, Shingo Kamoshida & Mitsuhiro Kamimura
Article: e1165909
Published online: 21 Apr 2016
AbstractforOrotate phosphoribosyltransferase is overexpressed in malignant pleural mesothelioma: Dramatically responds one case in high OPRT expression | Full Text | References | PDF (749.7 KB)
  • 1834 Views
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Review

Review Article
EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10
Ola Abdelhadi, Daniela Iancu, Horia Stanescu, Robert Kleta & Detlef Bockenhauer
Article: e1195043
Published online: 17 Jun 2016
AbstractforEAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10 | Full Text | References | PDF (447.5 KB)
  • 2496 Views
  • 31 CrossRef citations
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Addendum

Addendum
Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation
Kerri J. Kinghorn & Jorge Iván Castillo-Quan
Article: e1128616
Published online: 18 Feb 2016
AbstractforMitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation | Full Text | References | PDF (931.3 KB)
  • 3636 Views
  • 10 CrossRef citations
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Open Access
Addendum
A commentary on the utility of a new L-DOPA-responsive dystonia mouse model
Samuel J. Rose & Ellen J. Hess
Article: e1128617
Published online: 11 Feb 2016
AbstractforA commentary on the utility of a new L-DOPA-responsive dystonia mouse model | Full Text | References | PDF (319.6 KB)
  • 1674 Views
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Open Access
Addendum
The conditional KO approach: Cre/Lox technology in human neurons
Christopher Patzke & Thomas C. Südhof
Article: e1131884
Published online: 18 Feb 2016
AbstractforThe conditional KO approach: Cre/Lox technology in human neurons | Full Text | References | PDF (539.9 KB)
  • 2690 Views
  • 8 CrossRef citations
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Open Access
Addendum
Problems and solutions for the analysis of somatic CAG repeat expansion and their relationship to Huntington's disease toxicity
Helen Budworth & Cynthia T. McMurray
Article: e1131885
Published online: 18 Feb 2016
AbstractforProblems and solutions for the analysis of somatic CAG repeat expansion and their relationship to Huntington's disease toxicity | Full Text | References | PDF (588.2 KB)
  • 2065 Views
  • 5 CrossRef citations
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Addendum
Beyond multiple mechanisms and a unique drug: Defective autophagy as pivotal player in cerebral cavernous malformation pathogenesis and implications for targeted therapies
Saverio Marchi, Eliana Trapani, Mariangela Corricelli, Luca Goitre, Paolo Pinton & Saverio Francesco Retta
Article: e1142640
Published online: 10 Mar 2016
AbstractforBeyond multiple mechanisms and a unique drug: Defective autophagy as pivotal player in cerebral cavernous malformation pathogenesis and implications for targeted therapies | Full Text | References | PDF (468.5 KB)
  • 2160 Views
  • 24 CrossRef citations
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Addendum
Dystrophin: The dead calm of a dogma
Dariusz C. Górecki
Article: e1153777
Published online: 23 Mar 2016
AbstractforDystrophin: The dead calm of a dogma | Full Text | References | PDF (347.4 KB)
  • 2237 Views
  • 3 CrossRef citations
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Addendum
The calpain-suppressing effects of olesoxime in Huntington's disease
Jonasz J. Weber, Midea M. Ortiz Rios, Olaf Riess, Laura E. Clemens & Huu P. Nguyen
Article: e1153778
Published online: 06 Apr 2016
AbstractforThe calpain-suppressing effects of olesoxime in Huntington's disease | Full Text | References | PDF (877.4 KB)
  • 1823 Views
  • 11 CrossRef citations
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Addendum
Simvastatin offers new prospects for the treatment of Duchenne muscular dystrophy
Nicholas P. Whitehead, Min Jeong Kim, Kenneth L. Bible, Marvin E. Adams & Stanley C. Froehner
Article: e1156286
Published online: 12 Apr 2016
AbstractforSimvastatin offers new prospects for the treatment of Duchenne muscular dystrophy | Full Text | References | PDF (415.7 KB)
  • 2169 Views
  • 8 CrossRef citations
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Addendum
Pigmentation-based insertional mutagenesis is a simple and potent screening approach for identifying neurocristopathy-associated genes in mice
Nicolas Pilon
Article: e1156287
Published online: 06 Apr 2016
AbstractforPigmentation-based insertional mutagenesis is a simple and potent screening approach for identifying neurocristopathy-associated genes in mice | Full Text | References | PDF (552 KB)
  • 1245 Views
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Addendum
SDF1-CXCR4 signaling: A new player involved in DiGeorge/22q11-deletion syndrome
Jean-Loup Duband, Sophie Escot & Claire Fournier-Thibault
Article: e1195050
Published online: 21 Jun 2016
AbstractforSDF1-CXCR4 signaling: A new player involved in DiGeorge/22q11-deletion syndrome | Full Text | References | PDF (457.7 KB)
  • 1577 Views
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Addendum
Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases
Moones Heidari, Sam H. Gerami, Brianna Bassett, Ross M. Graham, Anita C.G. Chua, Ritambhara Aryal, Michael J. House, Joanna F. Collingwood, Conceição Bettencourt, Henry Houlden, Mina Ryten (for the UK Brain Expression Consortium (UKBEC)) , John K. Olynyk, Debbie Trinder, Daniel M. Johnstone & Elizabeth A. Milward
Article: e1198458
Published online: 07 Jul 2016
AbstractforPathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases | Full Text | References | PDF (623.7 KB) | Supplemental
  • 2551 Views
  • 6 CrossRef citations
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Open Access
Addendum
Pigment epithelium-derived factor (PEDF) normalizes matrix defects in iPSCs derived from Osteogenesis imperfecta Type VI
Glenn S. Belinsky, Leanne Ward & Chuhan Chung
Article: e1212150
Published online: 10 Aug 2016
AbstractforPigment epithelium-derived factor (PEDF) normalizes matrix defects in iPSCs derived from Osteogenesis imperfecta Type VI | Full Text | References | PDF (413.4 KB)
  • 1666 Views
  • 3 CrossRef citations
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Open Access
Addendum
Neurodevelopmental models of transcription factor 4 deficiency converge on a common ion channel as a potential therapeutic target for Pitt Hopkins syndrome
Matthew D. Rannals, Stephanie Cerceo Page, Morganne N. Campbell, Ryan A. Gallo, Brent Mayfield & Brady J. Maher
Article: e1220468
Published online: 30 Aug 2016
AbstractforNeurodevelopmental models of transcription factor 4 deficiency converge on a common ion channel as a potential therapeutic target for Pitt Hopkins syndrome | Full Text | References | PDF (389.7 KB)
  • 1942 Views
  • 20 CrossRef citations
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Open Access
Addendum
Listen to your gut: Using adhesion to shape the surface of functionally diverse epithelia
Matthew J. Tyska
Article: e1220469
Published online: 25 Aug 2016
AbstractforListen to your gut: Using adhesion to shape the surface of functionally diverse epithelia | Full Text | References | PDF (630.4 KB)
  • 1504 Views
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Addendum
Vascular-targeted recombinant adeno-associated viral vectors for the treatment of rare diseases
Jakob Körbelin, Markus Schwaninger & Martin Trepel
Article: e1220470
Published online: 25 Aug 2016
AbstractforVascular-targeted recombinant adeno-associated viral vectors for the treatment of rare diseases | Full Text | References | PDF (332.4 KB)
  • 2216 Views
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Addendum
Molecular mechanisms underlying Spinocerebellar Ataxia 17 (SCA17) pathogenesis
Su Yang, Xiao-Jiang Li & Shihua Li
Article: e1223580
Published online: 30 Aug 2016
AbstractforMolecular mechanisms underlying Spinocerebellar Ataxia 17 (SCA17) pathogenesis | Full Text | References | PDF (398.5 KB)
  • 1924 Views
  • 18 CrossRef citations
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Addendum
Staufen1s role as a splicing factor and a disease modifier in Myotonic Dystrophy Type I
Emma Bondy-Chorney, Tara E. Crawford Parks, Aymeric Ravel-Chapuis, Bernard J. Jasmin & Jocelyn Côté
Article: e1225644
Published online: 12 Sep 2016
AbstractforStaufen1s role as a splicing factor and a disease modifier in Myotonic Dystrophy Type I | Full Text | References | PDF (645.3 KB)
  • 1840 Views
  • 4 CrossRef citations
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Open Access
Addendum
What do we learn from the murine Jacob/Nsmf gene knockout for human disease?
Christina Spilker, Katarzyna M. Grochowska & Michael R. Kreutz
Article: e1241361
Published online: 14 Oct 2016
AbstractforWhat do we learn from the murine Jacob/Nsmf gene knockout for human disease? | Full Text | References | PDF (528.7 KB)
  • 1431 Views
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Addendum
Canine models of human rare disorders
Marjo K. Hytönen & Hannes Lohi
Article: e1241362
Published online: 13 Oct 2016
AbstractforCanine models of human rare disorders | Full Text | References | PDF (475.9 KB)
  • 3058 Views
  • 36 CrossRef citations
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Addendum
Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism
Elizabeth M. Turner & Christian Schlieker
Article: e1241363
Published online: 14 Oct 2016
AbstractforPelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism | Full Text | References | PDF (579.5 KB)
  • 1628 Views
  • 12 CrossRef citations
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Explore articles

Explore the most recently published articles

Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation
Kerri J. Kinghorn et al.
Addendum | Published online: 18 Feb 2016
Open Access
A commentary on the utility of a new L-DOPA-responsive dystonia mouse model
Samuel J. Rose et al.
Addendum | Published online: 11 Feb 2016
Open Access
The conditional KO approach: Cre/Lox technology in human neurons
Christopher Patzke et al.
Addendum | Published online: 18 Feb 2016
Open Access
Problems and solutions for the analysis of somatic CAG repeat expansion and their relationship to Huntington's disease toxicity
Helen Budworth et al.
Addendum | Published online: 18 Feb 2016
Open Access