Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgotten (Q27015911)

Amanda Wong

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2

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Evelyn Ralston

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Rachel Myerowitz

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4

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language of work or name

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15 February 2012

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics

published in

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volume

160C

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issue

1

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page(s)

13-21

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Starch binding domain-containing protein 1/genethonin 1 is a novel participant in glycogen metabolism

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21 March 2017

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Homeostatic levels of p62 control cytoplasmic inclusion body formation in autophagy-deficient mice

21 March 2017

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p62/SQSTM1 binds directly to Atg8/LC3 to facilitate degradation of ubiquitinated protein aggregates by autophagy

21 March 2017

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LC3, a mammalian homologue of yeast Apg8p, is localized in autophagosome membranes after processing

21 March 2017

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Glycogen stored in skeletal but not in cardiac muscle in acid alpha-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme

21 March 2017

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Impairment of starvation-induced and constitutive autophagy in Atg7-deficient mice

21 March 2017

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Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II

21 March 2017

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p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death

21 March 2017

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The role of autophagy during the early neonatal starvation period

7 April 2017

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Eaten alive: a history of macroautophagy

7 April 2017

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Microautophagy in mammalian cells: revisiting a 40-year-old conundrum

7 April 2017

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Biogenesis and cargo selectivity of autophagosomes

28 September 2017

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Mitochondria removal by autophagy

28 September 2017

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Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder--murine Pompe disease

28 September 2017

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Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy

28 September 2017

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Impaired organization and function of myofilaments in single muscle fibers from a mouse model of Pompe disease

28 September 2017

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Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type II.

28 September 2017

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Mitochondrial dysfunction and oxidative stress mediate the physiological impairment induced by the disruption of autophagy

28 September 2017

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Pompe disease in infants: improving the prognosis by newborn screening and early treatment.

28 September 2017

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When more is less: excess and deficiency of autophagy coexist in skeletal muscle in Pompe disease

28 September 2017

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28 September 2017

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Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3265635

Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand...

28 September 2017

1 reference

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Methods for monitoring autophagy from yeast to human

28 September 2017

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Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3265635

Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3265635

Autophagy and lysosomes in Pompe disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3265635

Autophagic degradation of glycogen in skeletal muscles of the newborn rat

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3265635

Acid maltase deficiency in adults. Clinical, morphological and biochemical study of three patients

28 September 2017

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Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification

28 September 2017

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alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).

31 May 2018

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Isolation and characterization of rat liver amphisomes. Evidence for fusion of autophagosomes with both early and late endosomes.

31 May 2018

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Localization of dystrophin and beta-spectrin in vacuolar myopathies

31 May 2018

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Infantile acid maltase deficiency. I. Muscle fiber destruction after lysosomal rupture

31 May 2018

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Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies

31 May 2018

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Chorionic villus ultrastructure in type II glycogen storage disease (Pompe's disease)

31 May 2018

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Infantile Pompe's disease, lipid storage, and partial carnitine deficiency.

31 May 2018

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Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.

31 May 2018

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Autophagy inhibition induces atrophy and myopathy in adult skeletal muscles.

21 January 2018

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Enzyme replacement therapy in the mouse model of Pompe disease

21 January 2018

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Glycogen autophagy in the liver and heart of newborn rats. The effects of glucagon, adrenalin or rapamycin

21 January 2018

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Mitochondrial activity in Pompe's disease

28 November 2018

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12 December 2020

Autophagic glycogenosis of late onset with mitochondrial abnormalities: light and electron microscopic observations

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12 December 2020

Correlations between histochemical and ultrastructural studies of diseased muscle

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12 December 2020

Ultrastructure of the eye in fetal type II glycogenosis (Pompe's disease)

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12 December 2020

Adult glycogenosis II with paracrystalline mitochondrial inclusions and Hirano bodies in skeletal muscle.

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12 December 2020

Prenatal diagnosis of Pompe disease by electron microscopy

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12 December 2020

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12 December 2020

Pathology of skeletal muscle cells in adult-onset glycogenosis type II (Pompe disease): ultrastructural study

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12 December 2020