(Q51899563)

17 April 2018

title

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). (English)

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17 April 2018

neurodegeneration with brain iron accumulation

main subject

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9

Arnold Munnich

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17 April 2018

14

John Hardy

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17 April 2018

2

Coro Paisán-Ruiz

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Randall L Woltjer

8

object named as

Randall L Woltjer

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17 April 2018

author name string

Michael C Kruer

1

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17 April 2018

Nathalie Boddaert

3

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17 April 2018

Moon Y Yoon

4

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17 April 2018

Hiroko Hama

5

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17 April 2018

Allison Gregory

6

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17 April 2018

Alessandro Malandrini

7

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17 April 2018

Stephanie Gobin

10

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17 April 2018

Brenda J Polster

11

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17 April 2018

Silvia Palmeri

12

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17 April 2018

Simon Edvardson

13

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17 April 2018

Henry Houlden

15

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17 April 2018

Susan J Hayflick

16

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17 April 2018

publication date

1 November 2010

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17 April 2018

published in

Annals of Neurology

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17 April 2018

volume

68

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17 April 2018

issue

5

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17 April 2018

page(s)

611-618

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17 April 2018

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

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Layer-specific variation of iron content in cerebral cortex as a source of MRI contrast.

25 August 2018

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Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

25 August 2018

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Fatty acid 2-Hydroxylation in mammalian sphingolipid biology

25 August 2018

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Frontotemporal dementia-amyotrophic lateral sclerosis complex is simulated by neurodegeneration with brain iron accumulation.

25 August 2018

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Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene.

25 August 2018

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Critical role of iron in the pathogenesis of the murine gangliosidoses.

25 August 2018

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Protective role of endogenous gangliosides for lysosomal pathology in a cellular model of synucleinopathies

25 August 2018

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Cd2+, Mn2+, Ni2+ and Se2+ toxicity to Saccharomyces cerevisiae lacking YPK9p the orthologue of human ATP13A2

25 August 2018

1 reference

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Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity

25 August 2018

1 reference

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Fatty acid 2-hydroxylase regulates cAMP-induced cell cycle exit in D6P2T schwannoma cells

25 August 2018

1 reference

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Ceramide and neurodegeneration: susceptibility of neurons and oligodendrocytes to cell damage and death

25 August 2018

1 reference

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Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia

25 August 2018

1 reference

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Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease

25 August 2018

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Clinical and genetic delineation of neurodegeneration with brain iron accumulation

25 August 2018

1 reference

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Absence of 2-hydroxylated sphingolipids is compatible with normal neural development but causes late-onset axon and myelin sheath degeneration

25 August 2018

1 reference

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Neurodegeneration associated with genetic defects in phospholipase A(2).

25 August 2018

1 reference

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Characterization of PLA2G6 as a locus for dystonia-parkinsonism

25 August 2018

1 reference

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Myelin breakdown and iron changes in Huntington's disease: pathogenesis and treatment implications

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059612

Decreased T2 signal in the thalami may be a sign of lysosomal storage disease

25 August 2018

1 reference

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Application of genome-wide single nucleotide polymorphism typing: simple association and beyond

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059612

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059612

Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations.

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059612

Ceramide induces neuronal apoptosis through mitogen-activated protein kinases and causes release of multiple mitochondrial proteins.

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059612

The human FA2H gene encodes a fatty acid 2-hydroxylase

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059612

The role of iron in the pathogenesis of experimental allergic encephalomyelitis and multiple sclerosis

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059612

Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059612

Role of cyclin D1 cytoplasmic sequestration in the survival of postmitotic neurons

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059612

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059612

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059612

Neurodegeneration with brain iron accumulation, type 1 is characterized by alpha-, beta-, and gamma-synuclein neuropathology

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059612

Juvenile-onset generalized neuroaxonal dystrophy (Hallervorden-Spatz disease) with diffuse neurofibrillary and lewy body pathology

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059612

Aceruloplasminemia: molecular characterization of this disorder of iron metabolism

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059612

Sea-blue histiocytes, lymphocytic cytosomes, movement disorder and 59Fe-uptake in basal ganglia: Hallervorden-Spatz disease or ceroid storage disease with abnormal isotope scan?

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059612

25 August 2018

Identifiers

DOI

10.1002/ANA.22122

1 reference

17 April 2018

PMC publication ID

6059612

0 references

1 reference

17 April 2018