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Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics

The FASEB journal, 2019-02, Vol.33 (2), p.2982-2994

2019

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Polycystin-2 Is Required for Chondrocyte Mechanotransduction and Traffics to the Primary Cilium in Response to Mechanical Stimulation

International journal of molecular sciences, 2021-04, Vol.22 (9), p.4313

2021

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Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

Human molecular genetics, 2017-07, Vol.26 (13), p.2480-2492

2017

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Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

Nature genetics, 2012-07, Vol.44 (7), p.740-742

2012

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GATA3 induces mitochondrial biogenesis in primary human CD4+ T cells during DNA damage

Nature communications, 2021-06, Vol.12 (1), p.3379-3379, Article 3379

2021

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Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay

Brain (London, England : 1878), 2018-04, Vol.141 (4), p.989-999

2018

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The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control

Human molecular genetics, 2014-12, Vol.23 (24), p.6594-6606

2014

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A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay

Human molecular genetics, 2016-08, Vol.25 (15), p.3232-3244

2016

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Mitochondria form contact sites with the nucleus to couple prosurvival retrograde response

Science advances, 2020-12, Vol.6 (51)

2020

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Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families

Human mutation, 2010-08, Vol.31 (8), p.950-960

2010

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MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family

Proceedings of the National Academy of Sciences - PNAS, 2009-04, Vol.106 (15), p.6146-6151

2009

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Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

Proceedings of the National Academy of Sciences - PNAS, 2012-01, Vol.109 (5), p.1661-1666

2012

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Somatostatin Analogs Modulate AIP in Somatotroph Adenomas: The Role of the ZAC1 Pathway

The journal of clinical endocrinology and metabolism, 2012-08, Vol.97 (8), p.E1411-E1420

2012

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CRISPR-Cas9 correction of OPA1 c.1334G>A: p.R445H restores mitochondrial homeostasis in dominant optic atrophy patient-derived iPSCs

Molecular therapy. Nucleic acids, 2021-12, Vol.26, p.432-443

2021

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Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy

Trends in molecular medicine, 2005-04, Vol.11 (4), p.177-185

2005

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Mutations in MRAP , encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

Nature genetics, 2005-02, Vol.37 (2), p.166-170

2005

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The role of HSP70 and its co-chaperones in protein misfolding, aggregation and disease

Sub-cellular biochemistry, 2015, Vol.78, p.243

2015

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Heat shock induces rapid resorption of primary cilia

Journal of cell science, 2012-09, Vol.125 (Pt 18), p.4297-4305

2012

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From hatching to dispatching: the multiple cellular roles of the Hsp70 molecular chaperone machinery

Journal of molecular endocrinology, 2009-01, Vol.42 (1), p.1-9

2009

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The Role of the Aryl Hydrocarbon Receptor-Interacting Protein Gene in Familial and Sporadic Pituitary Adenomas

The journal of clinical endocrinology and metabolism, 2008-06, Vol.93 (6), p.2390-2401

2008

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BiP prevents rod opsin aggregation

Molecular biology of the cell, 2012-09, Vol.23 (18), p.3522-3531

2012

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AlphaFold predicted structure of the Hsp90-like domains of the neurodegeneration linked protein sacsin reveals key residues for ATPase activity

Frontiers in molecular biosciences, 2023-01, Vol.9, p.1074714-1074714

2023

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Distinct Melanocortin 2 Receptor Accessory Protein Domains Are Required for Melanocortin 2 Receptor Interaction and Promotion of Receptor Trafficking

Endocrinology (Philadelphia), 2009-02, Vol.150 (2), p.720-726

2009

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Generation of glucocorticoid-producing cells derived from human pluripotent stem cells

Cell reports methods, 2023-11, Vol.3 (11), p.100627-100627, Article 100627

2023

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Can faulty antennae increase adiposity? The link between cilia proteins and obesity

Journal of endocrinology, 2009-12, Vol.203 (3), p.327-336

2009

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Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics

Polycystin-2 Is Required for Chondrocyte Mechanotransduction and Traffics to the Primary Cilium in Response to Mechanical Stimulation

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

GATA3 induces mitochondrial biogenesis in primary human CD4+ T cells during DNA damage

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay

The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control

A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay

Mitochondria form contact sites with the nucleus to couple prosurvival retrograde response

Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families

MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

Somatostatin Analogs Modulate AIP in Somatotroph Adenomas: The Role of the ZAC1 Pathway

CRISPR-Cas9 correction of OPA1 c.1334G>A: p.R445H restores mitochondrial homeostasis in dominant optic atrophy patient-derived iPSCs

Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy

Mutations in MRAP , encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

The role of HSP70 and its co-chaperones in protein misfolding, aggregation and disease

Heat shock induces rapid resorption of primary cilia

From hatching to dispatching: the multiple cellular roles of the Hsp70 molecular chaperone machinery

The Role of the Aryl Hydrocarbon Receptor-Interacting Protein Gene in Familial and Sporadic Pituitary Adenomas

BiP prevents rod opsin aggregation

AlphaFold predicted structure of the Hsp90-like domains of the neurodegeneration linked protein sacsin reveals key residues for ATPase activity

Distinct Melanocortin 2 Receptor Accessory Protein Domains Are Required for Melanocortin 2 Receptor Interaction and Promotion of Receptor Trafficking

Generation of glucocorticoid-producing cells derived from human pluripotent stem cells

Can faulty antennae increase adiposity? The link between cilia proteins and obesity

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