(Q24320029)

neurodegeneration with brain iron accumulation 5

inferred from title

1 reference

Taki Nishimura

2

0 references

Kazuhiro Muramatsu

Kazuhiro Muramatsu

3

0 references

Yoshinori Tsurusaki

Yoshinori Tsurusaki

15

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Hirotomo Saitsu

Hirotomo Saitsu

1

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Mizushima Noboru

Noboru Mizushima

20

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Mitsuhiro Kato

Mitsuhiro Kato

19

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author name string

Hirofumi Kodera

4

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Satoko Kumada

5

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Kenji Sugai

6

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Emi Kasai-Yoshida

7

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Noriko Sawaura

8

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Hiroya Nishida

9

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Ai Hoshino

10

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Fukiko Ryujin

11

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Seiichiro Yoshioka

12

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Kiyomi Nishiyama

13

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Yukiko Kondo

14

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Mitsuko Nakashima

16

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Noriko Miyake

17

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Hirokazu Arakawa

18

0 references

Naomichi Matsumoto

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

21

0 references

language of work or name

English

0 references

publication date

April 2013

0 references

published in

Nature Genetics

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volume

45

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page(s)

445-9, 449e1

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issue

4

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cites work

1 reference

Mammalian Atg18 (WIPI2) localizes to omegasome-anchored phagophores and positively regulates LC3 lipidation

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Genetics of neurodegeneration with brain iron accumulation

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Hierarchy of Atg proteins in pre-autophagosomal structure organization

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Dynamic and transient interactions of Atg9 with autophagosomes, but not membrane integration, are required for autophagy.

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Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice

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Atg9a controls dsDNA-driven dynamic translocation of STING and the innate immune response

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

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WIPI-1alpha (WIPI49), a member of the novel 7-bladed WIPI protein family, is aberrantly expressed in human cancer and is linked to starvation-induced autophagy

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The role of Atg proteins in autophagosome formation

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The role of autophagy during the early neonatal starvation period

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

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Mitochondrial fission, fusion, and stress

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Loss of the autophagy protein Atg16L1 enhances endotoxin-induced IL-1beta production

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The Atg8 conjugation system is indispensable for proper development of autophagic isolation membranes in mice

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12 December 2020

Mammalian Atg2 proteins are essential for autophagosome formation and important for regulation of size and distribution of lipid droplets.

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12 December 2020

Structures containing Atg9A and the ULK1 complex independently target depolarized mitochondria at initial stages of Parkin-mediated mitophagy.

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First video report of static encephalopathy of childhood with neurodegeneration in adulthood.

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Generation of cell lines with tetracycline-regulated autophagy and a role for autophagy in controlling cell size.

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Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

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A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS.

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An assay for X inactivation based on differential methylation at the fragile X locus, FMR1.

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Protein misfolding disorders and macroautophagy

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MRI, MR spectroscopy, and diffusion tensor imaging findings in patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA).

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Syndromes of neurodegeneration with brain iron accumulation

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12 December 2020

Structure-based analyses reveal distinct binding sites for Atg2 and phosphoinositides in Atg18.

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12 December 2020

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

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The WD40 repeat PtdIns(3)P-binding protein EPG-6 regulates progression of omegasomes to autophagosomes.

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Neuroimaging features of neurodegeneration with brain iron accumulation.

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STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern

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