The Experts below are selected from a list of 267 Experts worldwide ranked by ideXlab platform
Thomas S. Jacques - One of the best experts on this subject based on the ideXlab platform.
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Mutations in SLC39A14 disrupt Manganese homeostasis and cause childhood-onset parkinsonism–dystonia
Nature Communications, 2016Co-Authors: Karin Tuschl, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul-sada, Christina Y. Hung, W. K. Chong, Michael A. Simpson, Esther Meyer, Thomas S. JacquesAbstract:Although Manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive Manganese transporter defect caused by mutations in SLC39A14. Excessive accumulation of Manganese in these patients results in rapidly progressive childhood-onset parkinsonism–dystonia with distinctive brain magnetic resonance imaging appearances and neurodegenerative features on post-mortem examination. We show that mutations in SLC39A14 impair Manganese transport in vitro and lead to Manganese dyshomeostasis and altered locomotor activity in zebrafish with CRISPR-induced slc39a14 null mutations. Chelation with disodium calcium edetate lowers blood Manganese levels in patients and can lead to striking clinical improvement. Our results demonstrate that SLC39A14 functions as a pivotal Manganese transporter in vertebrates.Karin Tuschl, Philippa Mills and colleagues report mutations in the Manganese (Mn) transporter gene SLC39A14in childhood-onset parkinsonism-dystonia. Using functional recapitulation, the authors also show that slc39A14 loss-of-function in zebrafish can lead to Mn dysregulation and locomotor impairment.
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mutations in slc39a14 disrupt Manganese homeostasis and cause childhood onset parkinsonism dystonia
Nature Communications, 2016Co-Authors: Karin Tuschl, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, W. K. Chong, Michael A. Simpson, Esther Meyer, Alaa K Abdulsada, Christina Hung, Thomas S. JacquesAbstract:Although Manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive Manganese transporter defect caused by mutations in SLC39A14. Excessive accumulation of Manganese in these patients results in rapidly progressive childhood-onset parkinsonism-dystonia with distinctive brain magnetic resonance imaging appearances and neurodegenerative features on post-mortem examination. We show that mutations in SLC39A14 impair Manganese transport in vitro and lead to Manganese dyshomeostasis and altered locomotor activity in zebrafish with CRISPR-induced slc39a14 null mutations. Chelation with disodium calcium edetate lowers blood Manganese levels in patients and can lead to striking clinical improvement. Our results demonstrate that SLC39A14 functions as a pivotal Manganese transporter in vertebrates.
Karin Tuschl - One of the best experts on this subject based on the ideXlab platform.
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Mutations in SLC39A14 disrupt Manganese homeostasis and cause childhood-onset parkinsonism–dystonia
Nature Communications, 2016Co-Authors: Karin Tuschl, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul-sada, Christina Y. Hung, W. K. Chong, Michael A. Simpson, Esther Meyer, Thomas S. JacquesAbstract:Although Manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive Manganese transporter defect caused by mutations in SLC39A14. Excessive accumulation of Manganese in these patients results in rapidly progressive childhood-onset parkinsonism–dystonia with distinctive brain magnetic resonance imaging appearances and neurodegenerative features on post-mortem examination. We show that mutations in SLC39A14 impair Manganese transport in vitro and lead to Manganese dyshomeostasis and altered locomotor activity in zebrafish with CRISPR-induced slc39a14 null mutations. Chelation with disodium calcium edetate lowers blood Manganese levels in patients and can lead to striking clinical improvement. Our results demonstrate that SLC39A14 functions as a pivotal Manganese transporter in vertebrates.Karin Tuschl, Philippa Mills and colleagues report mutations in the Manganese (Mn) transporter gene SLC39A14in childhood-onset parkinsonism-dystonia. Using functional recapitulation, the authors also show that slc39A14 loss-of-function in zebrafish can lead to Mn dysregulation and locomotor impairment.
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mutations in slc39a14 disrupt Manganese homeostasis and cause childhood onset parkinsonism dystonia
Nature Communications, 2016Co-Authors: Karin Tuschl, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, W. K. Chong, Michael A. Simpson, Esther Meyer, Alaa K Abdulsada, Christina Hung, Thomas S. JacquesAbstract:Although Manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive Manganese transporter defect caused by mutations in SLC39A14. Excessive accumulation of Manganese in these patients results in rapidly progressive childhood-onset parkinsonism-dystonia with distinctive brain magnetic resonance imaging appearances and neurodegenerative features on post-mortem examination. We show that mutations in SLC39A14 impair Manganese transport in vitro and lead to Manganese dyshomeostasis and altered locomotor activity in zebrafish with CRISPR-induced slc39a14 null mutations. Chelation with disodium calcium edetate lowers blood Manganese levels in patients and can lead to striking clinical improvement. Our results demonstrate that SLC39A14 functions as a pivotal Manganese transporter in vertebrates.
Esther Meyer - One of the best experts on this subject based on the ideXlab platform.
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Mutations in SLC39A14 disrupt Manganese homeostasis and cause childhood-onset parkinsonism–dystonia
Nature Communications, 2016Co-Authors: Karin Tuschl, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul-sada, Christina Y. Hung, W. K. Chong, Michael A. Simpson, Esther Meyer, Thomas S. JacquesAbstract:Although Manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive Manganese transporter defect caused by mutations in SLC39A14. Excessive accumulation of Manganese in these patients results in rapidly progressive childhood-onset parkinsonism–dystonia with distinctive brain magnetic resonance imaging appearances and neurodegenerative features on post-mortem examination. We show that mutations in SLC39A14 impair Manganese transport in vitro and lead to Manganese dyshomeostasis and altered locomotor activity in zebrafish with CRISPR-induced slc39a14 null mutations. Chelation with disodium calcium edetate lowers blood Manganese levels in patients and can lead to striking clinical improvement. Our results demonstrate that SLC39A14 functions as a pivotal Manganese transporter in vertebrates.Karin Tuschl, Philippa Mills and colleagues report mutations in the Manganese (Mn) transporter gene SLC39A14in childhood-onset parkinsonism-dystonia. Using functional recapitulation, the authors also show that slc39A14 loss-of-function in zebrafish can lead to Mn dysregulation and locomotor impairment.
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mutations in slc39a14 disrupt Manganese homeostasis and cause childhood onset parkinsonism dystonia
Nature Communications, 2016Co-Authors: Karin Tuschl, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, W. K. Chong, Michael A. Simpson, Esther Meyer, Alaa K Abdulsada, Christina Hung, Thomas S. JacquesAbstract:Although Manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive Manganese transporter defect caused by mutations in SLC39A14. Excessive accumulation of Manganese in these patients results in rapidly progressive childhood-onset parkinsonism-dystonia with distinctive brain magnetic resonance imaging appearances and neurodegenerative features on post-mortem examination. We show that mutations in SLC39A14 impair Manganese transport in vitro and lead to Manganese dyshomeostasis and altered locomotor activity in zebrafish with CRISPR-induced slc39a14 null mutations. Chelation with disodium calcium edetate lowers blood Manganese levels in patients and can lead to striking clinical improvement. Our results demonstrate that SLC39A14 functions as a pivotal Manganese transporter in vertebrates.
W. K. Chong - One of the best experts on this subject based on the ideXlab platform.
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Mutations in SLC39A14 disrupt Manganese homeostasis and cause childhood-onset parkinsonism–dystonia
Nature Communications, 2016Co-Authors: Karin Tuschl, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul-sada, Christina Y. Hung, W. K. Chong, Michael A. Simpson, Esther Meyer, Thomas S. JacquesAbstract:Although Manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive Manganese transporter defect caused by mutations in SLC39A14. Excessive accumulation of Manganese in these patients results in rapidly progressive childhood-onset parkinsonism–dystonia with distinctive brain magnetic resonance imaging appearances and neurodegenerative features on post-mortem examination. We show that mutations in SLC39A14 impair Manganese transport in vitro and lead to Manganese dyshomeostasis and altered locomotor activity in zebrafish with CRISPR-induced slc39a14 null mutations. Chelation with disodium calcium edetate lowers blood Manganese levels in patients and can lead to striking clinical improvement. Our results demonstrate that SLC39A14 functions as a pivotal Manganese transporter in vertebrates.Karin Tuschl, Philippa Mills and colleagues report mutations in the Manganese (Mn) transporter gene SLC39A14in childhood-onset parkinsonism-dystonia. Using functional recapitulation, the authors also show that slc39A14 loss-of-function in zebrafish can lead to Mn dysregulation and locomotor impairment.
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mutations in slc39a14 disrupt Manganese homeostasis and cause childhood onset parkinsonism dystonia
Nature Communications, 2016Co-Authors: Karin Tuschl, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, W. K. Chong, Michael A. Simpson, Esther Meyer, Alaa K Abdulsada, Christina Hung, Thomas S. JacquesAbstract:Although Manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive Manganese transporter defect caused by mutations in SLC39A14. Excessive accumulation of Manganese in these patients results in rapidly progressive childhood-onset parkinsonism-dystonia with distinctive brain magnetic resonance imaging appearances and neurodegenerative features on post-mortem examination. We show that mutations in SLC39A14 impair Manganese transport in vitro and lead to Manganese dyshomeostasis and altered locomotor activity in zebrafish with CRISPR-induced slc39a14 null mutations. Chelation with disodium calcium edetate lowers blood Manganese levels in patients and can lead to striking clinical improvement. Our results demonstrate that SLC39A14 functions as a pivotal Manganese transporter in vertebrates.
Leonardo E. Valdivia - One of the best experts on this subject based on the ideXlab platform.
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Mutations in SLC39A14 disrupt Manganese homeostasis and cause childhood-onset parkinsonism–dystonia
Nature Communications, 2016Co-Authors: Karin Tuschl, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul-sada, Christina Y. Hung, W. K. Chong, Michael A. Simpson, Esther Meyer, Thomas S. JacquesAbstract:Although Manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive Manganese transporter defect caused by mutations in SLC39A14. Excessive accumulation of Manganese in these patients results in rapidly progressive childhood-onset parkinsonism–dystonia with distinctive brain magnetic resonance imaging appearances and neurodegenerative features on post-mortem examination. We show that mutations in SLC39A14 impair Manganese transport in vitro and lead to Manganese dyshomeostasis and altered locomotor activity in zebrafish with CRISPR-induced slc39a14 null mutations. Chelation with disodium calcium edetate lowers blood Manganese levels in patients and can lead to striking clinical improvement. Our results demonstrate that SLC39A14 functions as a pivotal Manganese transporter in vertebrates.Karin Tuschl, Philippa Mills and colleagues report mutations in the Manganese (Mn) transporter gene SLC39A14in childhood-onset parkinsonism-dystonia. Using functional recapitulation, the authors also show that slc39A14 loss-of-function in zebrafish can lead to Mn dysregulation and locomotor impairment.
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mutations in slc39a14 disrupt Manganese homeostasis and cause childhood onset parkinsonism dystonia
Nature Communications, 2016Co-Authors: Karin Tuschl, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, W. K. Chong, Michael A. Simpson, Esther Meyer, Alaa K Abdulsada, Christina Hung, Thomas S. JacquesAbstract:Although Manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive Manganese transporter defect caused by mutations in SLC39A14. Excessive accumulation of Manganese in these patients results in rapidly progressive childhood-onset parkinsonism-dystonia with distinctive brain magnetic resonance imaging appearances and neurodegenerative features on post-mortem examination. We show that mutations in SLC39A14 impair Manganese transport in vitro and lead to Manganese dyshomeostasis and altered locomotor activity in zebrafish with CRISPR-induced slc39a14 null mutations. Chelation with disodium calcium edetate lowers blood Manganese levels in patients and can lead to striking clinical improvement. Our results demonstrate that SLC39A14 functions as a pivotal Manganese transporter in vertebrates.
