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Literature DB >> 14760529

Sisters with alpha-mannosidosis and systemic lupus erythematosus.

Maki Urushihara¹, Shoji Kagami, Koji Yasutomo, Michinori Ito, Shuji Kondo, Akiko Kitamura, Dag Malm, Helle Klenow, Oivind Nilssen, Yasuhiro Kuroda.

Abstract

UNLABELLED: Alpha-mannosidosis is an autosomal recessive disorder caused by deficiency of lysosomal alpha-mannosidase (LAMAN). Here, we report two sisters with alpha-mannosidosis who developed systemic lupus erythematosus (SLE). The sisters were both homozygous for a one bp deletion within the LAMAN gene resulting in a truncated gene product. The coincidence of alpha-mannosidosis and SLE are discussed with regard to both clinical and molecular findings.
CONCLUSION: alpha-mannnosidosis may contribute to the onset of systemic lupus erythematosus in predisposed patients.

Entities: Disease Gene Species

Mesh：

Substances：
alpha-Mannosidase

Year: 2004 PMID： 14760529 DOI： 10.1007/s00431-004-1404-2

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

12 in total

1. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus.

Authors: M C Hochberg
Journal: Arthritis Rheum Date: 1997-09

2. Mutation of DNASE1 in people with systemic lupus erythematosus.

Authors: K Yasutomo; T Horiuchi; S Kagami; H Tsukamoto; C Hashimura; M Urushihara; Y Kuroda
Journal: Nat Genet Date: 2001-08 Impact factor: 38.330

3. Fluorimetric estimation of 4-methyl-umbelliferyl-alpha-mannosidase activity in blood plasma.

Authors: P A Ockerman
Journal: Clin Chim Acta Date: 1969-03 Impact factor: 3.786

4. alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings.

Authors: O Nilssen; T Berg; H M Riise; U Ramachandran; G Evjen; G M Hansen; D Malm; L Tranebjaerg; O K Tollersrud
Journal: Hum Mol Genet Date: 1997-05 Impact factor: 6.150

5. Purification of feline lysosomal alpha-mannosidase, determination of its cDNA sequence and identification of a mutation causing alpha-mannosidosis in Persian cats.

Authors: T Berg; O K Tollersrud; S U Walkley; D Siegel; O Nilssen
Journal: Biochem J Date: 1997-12-15 Impact factor: 3.857

6. Association of tumor necrosis factor receptor type II polymorphism 196R with Systemic lupus erythematosus in the Japanese: molecular and functional analysis.

Authors: C Morita; T Horiuchi; H Tsukamoto; N Hatta; Y Kikuchi; Y Arinobu; T Otsuka; T Sawabe; S Harashima; K Nagasawa; Y Niho
Journal: Arthritis Rheum Date: 2001-12

Review 7. The role of glycosylation in autoimmune disease.

Authors: P J Delves
Journal: Autoimmunity Date: 1998 Impact factor: 2.815

Review 8. Mammalian alpha-mannosidases--multiple forms but a common purpose?

Authors: P F Daniel; B Winchester; C D Warren
Journal: Glycobiology Date: 1994-10 Impact factor: 4.313

9. [Two siblings with beta-galactosidase-neuraminidase deficiency (galactosialidosis) developing clinical symptoms in early childhood].

Authors: E Takeda; Y Kuroda; T Tomita; H Kobashi; M Ito; T Watanabe; K Toshima; T Hashimoto; M Miyao
Journal: No To Hattatsu Date: 1984-09

10. Spectrum of mutations in alpha-mannosidosis.

Authors: T Berg; H M Riise; G M Hansen; D Malm; L Tranebjaerg; O K Tollersrud; O Nilssen
Journal: Am J Hum Genet Date: 1999-01 Impact factor: 11.025

11 in total

Review 1. New insights into the immunopathogenesis of systemic lupus erythematosus.

Authors: George C Tsokos; Mindy S Lo; Patricia Costa Reis; Kathleen E Sullivan
Journal: Nat Rev Rheumatol Date: 2016-11-22 Impact factor: 20.543

2. Localization and replication of the systemic lupus erythematosus linkage signal at 4p16: interaction with 2p11, 12q24 and 19q13 in European Americans.

Authors: Chao Xing; Andrea L Sestak; Jennifer A Kelly; Kim L Nguyen; Gail R Bruner; John B Harley; Courtney Gray-McGuire
Journal: Hum Genet Date: 2006-09-16 Impact factor: 4.132

3. Systemic lupus erythematosus as a genetic disease.

Authors: Isaac T W Harley; Amr H Sawalha
Journal: Clin Immunol Date: 2022-02-09 Impact factor: 10.190

Review 4. Monogenic systemic lupus erythematosus: insights in pathophysiology.

Authors: Ezgi Deniz Batu
Journal: Rheumatol Int Date: 2018-05-15 Impact factor: 2.631

5. Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies.

Authors: Irit Tirosh; Shiri Spielman; Ortal Barel; Reut Ram; Tali Stauber; Gideon Paret; Marina Rubinsthein; Itai M Pessach; Maya Gerstein; Yair Anikster; Rachel Shukrun; Adi Dagan; Katerina Adler; Ben Pode-Shakked; Alexander Volkov; Marina Perelman; Shoshana Greenberger; Raz Somech; Einat Lahav; Amar J Majmundar; Shai Padeh; Friedhelm Hildebrandt; Asaf Vivante
Journal: Pediatr Rheumatol Online J Date: 2019-07-30 Impact factor: 3.054

6. Long-term outcome of patients with alpha-mannosidosis - A single center study.

Authors: Patryk Lipiński; Agnieszka Różdżyńska-Świątkowska; Katarzyna Iwanicka-Pronicka; Barbara Perkowska; Paulina Pokora; Anna Tylki-Szymańska
Journal: Mol Genet Metab Rep Date: 2021-12-09

Review 7. Alpha-mannosidosis.

Authors: Dag Malm; Øivind Nilssen
Journal: Orphanet J Rare Dis Date: 2008-07-23 Impact factor: 4.123