Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.
about
Identification of residues/sequences in the human riboflavin transporter-2 that is important for function and cell biologyClinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experienceSLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiationGenome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin.Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.Riboflavin uptake transporter Slc52a2 (RFVT2) is upregulated in the mouse mammary gland during lactation.Promising riboflavin treatment for motor neuron disorder.Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.
P2860
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P2860
Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年學術文章
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name
Riboflavin transporter 3 invol ...... disease: two novel mutations.
@en
Riboflavin transporter 3 invol ...... disease: two novel mutations.
@nl
type
label
Riboflavin transporter 3 invol ...... disease: two novel mutations.
@en
Riboflavin transporter 3 invol ...... disease: two novel mutations.
@nl
prefLabel
Riboflavin transporter 3 invol ...... disease: two novel mutations.
@en
Riboflavin transporter 3 invol ...... disease: two novel mutations.
@nl
P2093
P50
P1476
Riboflavin transporter 3 invol ...... disease: two novel mutations.
@en
P2093
Cristiano Rizzo
Marianna Ciccolella
Michela Catteruccia
Teresa Rizza
P304
P356
10.1136/JMEDGENET-2012-101204
P407
P50
P577
2012-12-14T00:00:00Z