scholarly journals A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers

2018 ◽  
Vol 20 (10) ◽  
pp. 1274-1283 ◽  
Author(s):  
Michael F Wangler ◽  
Leroy Hubert ◽  
Taraka R Donti ◽  
Meredith J Ventura ◽  
Marcus J Miller ◽  
...  
Keyword(s):  
Disease Biomarkers ◽  
Spectrum Disorders ◽  
Zellweger Spectrum Disorders

scholarly journals A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

2017 ◽  
Vol 4 (1) ◽  
Author(s):  
Amale Bousfiha ◽  
Amina Bakhchane ◽  
Hicham Charoute ◽  
Zied Riahi ◽  
Khalid Snoussi ◽  
...  
Keyword(s):  
Moroccan Family ◽  
Spectrum Disorders ◽  
Zellweger Spectrum Disorders

scholarly journals Cholic acid therapy in Zellweger spectrum disorders

2016 ◽  
Vol 39 (6) ◽  
pp. 859-868 ◽  
Author(s):  
Kevin Berendse ◽  
Femke C. C. Klouwer ◽  
Bart G. P. Koot ◽  
Elles M. Kemper ◽  
Sacha Ferdinandusse ◽  
...  
Keyword(s):  
Cholic Acid ◽  
Acid Therapy ◽  
Spectrum Disorders ◽  
Zellweger Spectrum Disorders

scholarly journals Development and validation of a severity scoring system for Zellweger spectrum disorders

2017 ◽  
Vol 93 (3) ◽  
pp. 613-621 ◽  
Author(s):  
F.C.C. Klouwer ◽  
A. Meester-Delver ◽  
F.M. Vaz ◽  
H.R. Waterham ◽  
R.C.M. Hennekam ◽  
...  
Keyword(s):  
Scoring System ◽  
Severity Scoring ◽  
Spectrum Disorders ◽  
Zellweger Spectrum Disorders ◽  
Development And Validation

Lifelong course of Zellweger spectrum disorders: A cohort study

2017 ◽  
Vol 21 ◽  
pp. e2
Author(s):  
Femke C.C. Klouwer ◽  
Kevin Berendse ◽  
Marc Engelen ◽  
Frédéric M. Vaz ◽  
Sacha Ferdinandusse ◽  
...  
Keyword(s):  
Cohort Study ◽  
Spectrum Disorders ◽  
Zellweger Spectrum Disorders

Oral Cholic Acid in Zellweger Spectrum Disorders

2018 ◽  
Vol 66 (2) ◽  
pp. e57 ◽  
Author(s):  
Femke C.C. Klouwer ◽  
Nancy E. Braverman ◽  
Henkjan J. Verkade ◽  
Kevin Berendse ◽  
Hans R. Waterham ◽  
...  
Keyword(s):  
Cholic Acid ◽  
Spectrum Disorders ◽  
Zellweger Spectrum Disorders

scholarly journals High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders

2014 ◽  
Vol 9 (1) ◽  
Author(s):  
Kevin Berendse ◽  
Marc Engelen ◽  
Gabor E Linthorst ◽  
AS Paul van Trotsenburg ◽  
Bwee Tien Poll-The
Keyword(s):  
Adrenal Insufficiency ◽  
Primary Adrenal Insufficiency ◽  
High Prevalence ◽  
Spectrum Disorders ◽  
Zellweger Spectrum Disorders

scholarly journals Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female

2020 ◽  
Vol 24 ◽  
pp. 100615 ◽  
Author(s):  
Maria Rosaria Barillari ◽  
Marianthi Karali ◽  
Valentina Di Iorio ◽  
Maria Contaldo ◽  
Vincenzo Piccolo ◽  
...  
Keyword(s):  
Clinical Investigation ◽  
Mild Form ◽  
Spectrum Disorders ◽  
Zellweger Spectrum Disorders

scholarly journals Emotional experience in parents of children with Zellweger spectrum disorders: A qualitative study

2019 ◽  
Vol 19 ◽  
pp. 100459 ◽  
Author(s):  
Mousumi Bose ◽  
Meena Mahadevan ◽  
Dana R. Schules ◽  
Rory K. Coleman ◽  
Kelly M. Gawron ◽  
...  
Keyword(s):  
Qualitative Study ◽  
Emotional Experience ◽  
Spectrum Disorders ◽  
Zellweger Spectrum Disorders

scholarly journals High Dose Versus Low Dose Syngeneic Hepatocyte Transplantation in Pex1-G844D NMRI Mouse Model is Safe but Does Not Achieve Long Term Engraftment

Cells ◽  
2020 ◽  
Vol 10 (1) ◽  
pp. 40
Author(s):  
Tanguy Demaret ◽  
Jonathan Evraerts ◽  
Joachim Ravau ◽  
Martin Roumain ◽  
Giulio G. Muccioli ◽  
...  
Keyword(s):  
Mouse Model ◽  
Low Dose ◽  
Genetic Alterations ◽  
Hepatocyte Transplantation ◽  
High Dose ◽  
Nmri Mouse ◽  
History Of ◽  
Spectrum Disorders ◽  
Zellweger Spectrum Disorders

Genetic alterations in PEX genes lead to peroxisome biogenesis disorder. In humans, they are associated with Zellweger spectrum disorders (ZSD). No validated treatment has been shown to modify the dismal natural history of ZSD. Liver transplantation (LT) improved clinical and biochemical outcomes in mild ZSD patients. Hepatocyte transplantation (HT), developed to overcome LT limitations, was performed in a mild ZSD 4-year-old child with encouraging short-term results. Here, we evaluated low dose (12.5 million hepatocytes/kg) and high dose (50 million hepatocytes/kg) syngeneic male HT via intrasplenic infusion in the Pex1-G844D NMRI mouse model which recapitulates a mild ZSD phenotype. HT was feasible and safe in growth retarded ZSD mice. Clinical (weight and food intake) and biochemical parameters (very long-chain fatty acids, abnormal bile acids, etc.) were in accordance with ZSD phenotype but they were not robustly modified by HT. As expected, one third of the infused cells were detected in the liver 24 h post-HT. No liver nor spleen microchimerism was detected after 7, 14 and 30 days. Future optimizations are required to improve hepatocyte engraftment in Pex1-G844D NMRI mouse liver. The mouse model exhibited the robustness required for ZSD liver-targeted therapies evaluation.

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