The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Marion Delous; Lekbir Baala; Rémi Salomon; Christine Laclef; Jeanette Vierkotten; Kàlmàn Tory; Christelle Golzio; Tiphanie Lacoste; Laurianne Besse; Catherine Ozilou; Imane Moutkine; Nathan E Hellman; Isabelle Anselme; Flora Silbermann; Christine Vesque; Christoph Gerhardt; Eleanor Rattenberry; Matthias T F Wolf; Marie Claire Gubler; Jéléna Martinovic; Féréchté Encha-Razavi; Nathalie Boddaert; Marie Gonzales; Marie Alice Macher; Hubert Nivet; Gérard Champion; Jean Pierre Berthélémé; Patrick Niaudet; Fiona McDonald; Friedhelm Hildebrandt; Colin A Johnson; Michel Vekemans; Corinne Antignac; Ulrich Rüther; Sylvie Schneider-Maunoury; Tania Attié-Bitach; Sophie Saunier

doi:10.1038/ng2039

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Nature Genetics ◽

10.1038/ng2039 ◽

2007 ◽

Vol 39 (7) ◽

pp. 875-881 ◽

Cited By ~ 304

Author(s):

Marion Delous ◽

Lekbir Baala ◽

Rémi Salomon ◽

Christine Laclef ◽

Jeanette Vierkotten ◽

...

Keyword(s):

Joubert Syndrome ◽

Syndrome Type ◽

Type B ◽

Meckel Syndrome

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Faculty Opinions recommendation of The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1089662.544933 ◽

2007 ◽

Author(s):

Manfred Schliwa

Keyword(s):

Joubert Syndrome ◽

Syndrome Type ◽

Type B ◽

Meckel Syndrome

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Late onset of renal disease in nephronophthisis with features of Joubert syndrome type B

Nephrology Dialysis Transplantation ◽

10.1093/ndt/16.12.2412 ◽

2001 ◽

Vol 16 (12) ◽

pp. 2412-2415 ◽

Cited By ~ 10

Author(s):

Theofanis Apostolou ◽

Nikoletta Nikolopoulou ◽

Marios Theodoridis ◽

Vassilios Koumoustiotis ◽

Ekaterini Pavlopoulou ◽

...

Keyword(s):

Renal Disease ◽

Late Onset ◽

Joubert Syndrome ◽

Syndrome Type ◽

Type B

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Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B

Pediatric Nephrology ◽

10.1007/s004670050394 ◽

1998 ◽

Vol 12 (1) ◽

pp. 16-19 ◽

Cited By ~ 19

Author(s):

Friedhelm Hildebrandt ◽

◽

Hans Gerd Nothwang ◽

Urs Vossmerbäumer ◽

Cornelia Springer ◽

...

Keyword(s):

Joubert Syndrome ◽

Syndrome Type ◽

Type B ◽

Homozygous Deletions

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Design and rationale of ongoing observational and treatment studies for BMN 250: a novel enzyme replacement therapy for Sanfilippo syndrome type B

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2016.11.317 ◽

2017 ◽

Vol 120 (1-2) ◽

pp. S122 ◽

Cited By ~ 1

Author(s):

Adam Shaywitz ◽

Stephen Maricich ◽

Hua Yu ◽

Steve Kent

Keyword(s):

Enzyme Replacement Therapy ◽

Replacement Therapy ◽

Syndrome Type ◽

Type B ◽

Sanfilippo Syndrome ◽

Enzyme Replacement

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Mucopolysaccharidosis IIIB (Sanfilippo syndrome type B) masquerading as a behavioral disorder

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2012.11.042 ◽

2013 ◽

Vol 108 (2) ◽

pp. S26

Author(s):

Jacqueline Brady ◽

Aditi Trehan ◽

Rena Godfrey ◽

Cynthia Tifft ◽

Cornelius Boerkoel ◽

...

Keyword(s):

Behavioral Disorder ◽

Syndrome Type ◽

Type B ◽

Sanfilippo Syndrome

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Sanfilippo syndrome type B: Reprogramming cultured skin fibroblasts to induced pluripotent stem cells using non-integrating Sendai virus vector

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2014.12.271 ◽

2015 ◽

Vol 114 (2) ◽

pp. S118

Author(s):

Kelly A. Turner ◽

Francis Y. Choy

Keyword(s):

Stem Cells ◽

Induced Pluripotent Stem Cells ◽

Pluripotent Stem Cells ◽

Sendai Virus ◽

Virus Vector ◽

Syndrome Type ◽

Type B ◽

Sanfilippo Syndrome ◽

Cultured Skin ◽

Induced Pluripotent

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Comel-Netherton Syndrome: Evolution of Manifestation in a 20-year Follow-up and Phenotypic Overlap with Peeling Skin Syndrome Type B

Acta Dermato Venereologica ◽

10.1080/000155500750043005 ◽

2000 ◽

Vol 80 (3) ◽

pp. 209-210 ◽

Cited By ~ 5

Author(s):

I. Schneider, B. Sebök, Gy. Ko

Keyword(s):

Syndrome Type ◽

Type B ◽

Netherton Syndrome

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Attenuated plasticity in neurons and astrocytes in the mouse model of Sanfilippo syndrome type B

Journal of Neuroscience Research ◽

10.1002/jnr.10278 ◽

2002 ◽

Vol 69 (1) ◽

pp. 30-38 ◽

Cited By ~ 61

Author(s):

Hong Hua Li ◽

Hui-Zhi Zhao ◽

Elizabeth F. Neufeld ◽

Yan Cai ◽

Fernando Gómez-Pinilla

Keyword(s):

Mouse Model ◽

Syndrome Type ◽

Type B ◽

Sanfilippo Syndrome

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Design and rationale of the study programs for BMN 250, a novel enzyme replacement therapy (ERT) for Sanfilippo syndrome type B

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2015.12.438 ◽

2016 ◽

Vol 117 (2) ◽

pp. S105-S106 ◽

Cited By ~ 2

Author(s):

Adam J. Shaywitz ◽

MyungShin Oh ◽

Steve Kent

Keyword(s):

Enzyme Replacement Therapy ◽

Replacement Therapy ◽

Syndrome Type ◽

Type B ◽

Sanfilippo Syndrome ◽

Enzyme Replacement ◽

Study Programs

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Neural stem cells provide continuous enzyme replacement therapy and reduce neuropathology in Sanfilippo syndrome type B mice

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2017.12.308 ◽

2018 ◽

Vol 123 (2) ◽

pp. S115

Author(s):

Yewande E.O. Pearse ◽

Don Clarke ◽

Kan Shih-hsin ◽

Steven Q. Le ◽

Valentina Sanghez ◽

...

Keyword(s):

Stem Cells ◽

Enzyme Replacement Therapy ◽

Neural Stem Cells ◽

Replacement Therapy ◽

Syndrome Type ◽

Type B ◽

Sanfilippo Syndrome ◽

Enzyme Replacement ◽

B Mice

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