MULIBREY NANISM, AN AUTOSOMAL RECESSIVE SYNDROME WITH OCULAR INVOLVEMENT

2009 ◽  
Vol 60 (4) ◽  
pp. 628-633 ◽  
Author(s):  
A. TARKKANEN ◽  
C. RAITTA ◽  
J. PERHEENTUPA
Keyword(s):  
Autosomal Recessive ◽  
Ocular Involvement ◽  
Mulibrey Nanism

Mass Ascites in Mulibrey Nanism

2010 ◽  
Vol 23 (9) ◽  
Author(s):  
L. Husova ◽  
P. Husa ◽  
T. Brychta
Keyword(s):  
Mulibrey Nanism

Mulibrey Nanism

2020 ◽  
pp. 301-305
Author(s):  
Dongyou Liu
Keyword(s):  
Mulibrey Nanism

scholarly journals TRIM37 prevents formation of condensate-organized ectopic spindle poles to ensure mitotic fidelity

2021 ◽  
Vol 220 (7) ◽  
Author(s):  
Franz Meitinger ◽  
Dong Kong ◽  
Midori Ohta ◽  
Arshad Desai ◽  
Karen Oegema ◽  
...  
Keyword(s):  
Chromosome Segregation ◽  
Ubiquitin Ligase ◽  
Spindle Pole ◽  
Mitotic Entry ◽  
Centriole Duplication ◽  
Mulibrey Nanism ◽  
Spindle Poles ◽  
Pathological Mechanism ◽  
Pericentriolar Material ◽  
Centrosomal Proteins

Centrosomes are composed of a centriolar core surrounded by pericentriolar material that nucleates microtubules. The ubiquitin ligase TRIM37 localizes to centrosomes, but its centrosomal roles are not yet defined. We show that TRIM37 does not control centriole duplication, structure, or the ability of centrioles to form cilia but instead prevents assembly of an ectopic centrobin-scaffolded structured condensate that forms by budding off of centrosomes. In ∼25% of TRIM37-deficient cells, the condensate organizes an ectopic spindle pole, recruiting other centrosomal proteins and acquiring microtubule nucleation capacity during mitotic entry. Ectopic spindle pole–associated transient multipolarity and multipolar segregation in TRIM37-deficient cells are suppressed by removing centrobin, which interacts with and is ubiquitinated by TRIM37. Thus, TRIM37 ensures accurate chromosome segregation by preventing the formation of centrobin-scaffolded condensates that organize ectopic spindle poles. Mutations in TRIM37 cause the disorder mulibrey nanism, and patient-derived cells harbor centrobin condensate-organized ectopic poles, leading us to propose that chromosome missegregation is a pathological mechanism in this disorder.

Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism

1993 ◽  
Vol 152 (6) ◽  
pp. 509-512 ◽  
Author(s):  
Á. Haraldsson ◽  
C. J. A. M. van der Burgt ◽  
C. M. R. Weemaes ◽  
B. Otten ◽  
J. A. J. M. Bakkeren ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Antibody Deficiency ◽  
Hormone Deficiency ◽  
Isolated Growth Hormone Deficiency ◽  
Mulibrey Nanism

TRIM37 and Mulibrey Nanism

2016 ◽  
pp. 1413-1416
Author(s):  
Kaisa Kettunen ◽  
Niklas Karlberg ◽  
Susann Karlberg ◽  
Hannu Jalanko ◽  
Marita Lipsanen-Nyman ◽  
...  
Keyword(s):  
Mulibrey Nanism

TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase

2005 ◽  
Vol 308 (1) ◽  
pp. 146-155 ◽  
Author(s):  
Jukka Kallijärvi ◽  
Ulla Lahtinen ◽  
Riikka Hämäläinen ◽  
Marita Lipsanen-Nyman ◽  
Jorma J. Palvimo ◽  
...  
Keyword(s):  
Ring Finger ◽  
E3 Ligase ◽  
Ubiquitin E3 Ligase ◽  
Mulibrey Nanism

Cardiac Dysfunction in Children with Mulibrey Nanism

2007 ◽  
Vol 28 (3) ◽  
pp. 155-162 ◽  
Author(s):  
A. Eerola ◽  
J.I. Pihkala ◽  
N. Karlberg ◽  
M. Lipsanen-Nyman ◽  
E. Jokinen
Keyword(s):  
Cardiac Dysfunction ◽  
Mulibrey Nanism

Peroxisomal functions in Mulibrey nanism

1994 ◽  
Vol 17 (5) ◽  
pp. 626-626 ◽  
Author(s):  
R. B. H. Schutgens ◽  
M. Ryyn�nen ◽  
R. J. A. Wanders
Keyword(s):  
Mulibrey Nanism
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