Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). (Q33916484)

30 July 2017

title

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). (English)

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30 July 2017

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Mora M

7

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Michio Hirano

19

object named as

Hirano M

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ORCID Public Data File 2021

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11

Sue CM

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Nishino I

1

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Fu J

2

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Tanji K

3

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Yamada T

4

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Shimojo S

5

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Koori T

6

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Riggs JE

8

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Oh SJ

9

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Koga Y

10

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Yamamoto A

12

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Murakami N

13

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Shanske S

14

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Byrne E

15

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Bonilla E

16

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Nonaka I

17

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DiMauro S

18

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30 July 2017

language of work or name

English

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publication date

1 August 2000

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30 July 2017

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30 July 2017

volume

406

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30 July 2017

issue

6798

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30 July 2017

page(s)

906-910

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Lysosomal glycogen storage disease with normal acid maltase

30 July 2017

cites work

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7 January 2021

Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments

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7 January 2021

Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy

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7 January 2021

Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice

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7 January 2021

An alternatively spliced form of the human lysosome-associated membrane protein-2 gene is expressed in a tissue-specific manner

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7 January 2021

The rapidly evolving Pem homeobox gene and Agtr2, Ant2, and Lamp2 are closely linked in the proximal region of the mouse X chromosome

1 reference

7 January 2021

Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form

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7 January 2021

Lysosomal glycogen storage disease with normal acid maltase with early fatal outcome

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7 January 2021

X-linked vacuolated myopathy: complement membrane attack complex on surface membrane of injured muscle fibers

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7 January 2021

Elevated levels of complement components C5 and C9 and decreased antitrypsin activity in the serum of patients with X-linked vacuolated myopathy

1 reference

7 January 2021

X-linked vacuolated myopathy: membrane attack complex deposition on muscle fiber membranes with calcium accumulation on sarcolemma

1 reference

7 January 2021

Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28

1 reference

7 January 2021

X-linked vacuolar myopathies: Two separate loci and refined genetic mapping

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7 January 2021

Cell surface expression of lysosome‐associated membrane protein‐2 (lamp2) and CD63 as markers of in vivo platelet activation in malignancy

1 reference

7 January 2021

Lysosomes, a meeting point of proteins, chaperones, and proteases

1 reference

7 January 2021

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

1 reference

7 January 2021

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

1 reference

7 January 2021

Cerebral oxygen and glucose metabolism in glycogen storage disease with normal acid maltase: case report

1 reference

7 January 2021

Lysosomal glycogen storage with normal acid maltase: A familial study with successful heart transplant

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7 January 2021

Lysosomal glycogen storage disease without acid maltase deficiency

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7 January 2021

Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels

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7 January 2021

Identifiers

DOI

10.1038/35022604

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Dimensions Publication ID

30 July 2017

1016938876

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