Publications

2024

Efficient and selective kidney targeting by chemically modified carbohydrate conjugates
Kumar V, Wahane A, Tham M, Somlo S, Gupta A, Bahal R. Efficient and selective kidney targeting by chemically modified carbohydrate conjugates. Molecular Therapy 2024, 32: 4383-4400. PMID: 39532098, PMCID: PMC11638880, DOI: 10.1016/j.ymthe.2024.10.020.
Peer-Reviewed Original Research
Concepts
Adamts1 and Cyst Expansion in Polycystic Kidney Disease
Kakade V, Akman Z, Motrapu M, Cassini M, Xu L, Moeckel G, Somlo S, Cantley L. Adamts1 and Cyst Expansion in Polycystic Kidney Disease. Journal Of The American Society Of Nephrology 2024, 36: 559-570. PMID: 39514301, PMCID: PMC11975248, DOI: 10.1681/asn.0000000557.
Peer-Reviewed Original Research
Concepts
Genetic and Clinical Characterization of Patients with ADPKD and Intracranial Aneurysms: The PKD-VASC Cohort
Patel P, Besse W, Gulati A, Shaw M, Blumenfeld J, Pei Y, Gitomer B, Perrone R, Caliskan Y, Park H, Yu A, Dahl N, Rahbari-Oskoui F, Somlo S, Watnick T. Genetic and Clinical Characterization of Patients with ADPKD and Intracranial Aneurysms: The PKD-VASC Cohort. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024pma0ae6c. DOI: 10.1681/asn.2024pma0ae6c.
Peer-Reviewed Original Research
Concepts
Ryanodine Receptor 3 (RYR3) as a Candidate Modifier of Aneurysm Formation in ADPKD
Roy K, Gulati A, Gu J, Shaw M, Sun Z, Besse W, Watnick T, Somlo S. Ryanodine Receptor 3 (RYR3) as a Candidate Modifier of Aneurysm Formation in ADPKD. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024xfh9af06. DOI: 10.1681/asn.2024xfh9af06.
Peer-Reviewed Original Research
Glis3 Is a Modifier of Cyst Progression in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Wei Z, Tian X, Rehman M, Dong K, Cai Y, Cordido A, Somlo S. Glis3 Is a Modifier of Cyst Progression in Autosomal Dominant Polycystic Kidney Disease (ADPKD). Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024x2zerq4t. DOI: 10.1681/asn.2024x2zerq4t.
Peer-Reviewed Original Research
Functional Studies of Polycystin-1 Using a Novel Pkd1-HaloTag Mouse
Cordido A, Dong K, Cai Y, Tian X, Wei Z, Rehman M, Somlo S. Functional Studies of Polycystin-1 Using a Novel Pkd1-HaloTag Mouse. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024kjqymtyt. DOI: 10.1681/asn.2024kjqymtyt.
Peer-Reviewed Original Research
Chemical Modulation of the Ire1α-Xbp1 Pathway Reduces Cyst Size in ADPKD Mouse and Human Three-Dimensional Spheroids
Hasan F, Bhardwaj R, Rehman M, Cai Y, Dong K, Cordido A, Pioppini C, Yilmaz D, Tian X, Somlo S, Krappitz M, Fedeles S. Chemical Modulation of the Ire1α-Xbp1 Pathway Reduces Cyst Size in ADPKD Mouse and Human Three-Dimensional Spheroids. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024x8qpvhm3. DOI: 10.1681/asn.2024x8qpvhm3.
Peer-Reviewed Original Research
Concepts
Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease
Zhang C, Rehman M, Tian X, Pei S, Gu J, Bell T, Dong K, Tham M, Cai Y, Wei Z, Behrens F, Jetten A, Zhao H, Lek M, Somlo S. Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease. Nature Communications 2024, 15: 3698. PMID: 38693102, PMCID: PMC11063051, DOI: 10.1038/s41467-024-48025-6.
Peer-Reviewed Original Research
MeSH Keywords and Concepts
Genetic Analysis of Severe Polycystic Liver Disease in Japan
Mizuno H, Besse W, Sekine A, Long K, Kurihara S, Oba Y, Yamanouchi M, Hasegawa E, Suwabe T, Sawa N, Ubara Y, Somlo S, Hoshino J. Genetic Analysis of Severe Polycystic Liver Disease in Japan. Kidney360 2024, 5: 1106-1115. PMID: 38689396, PMCID: PMC11371350, DOI: 10.34067/kid.0000000000000461.
Peer-Reviewed Original Research
Concepts
A synthetic agent ameliorates polycystic kidney disease by promoting apoptosis of cystic cells through increased oxidative stress
Fedeles B, Bhardwaj R, Ishikawa Y, Khumsubdee S, Krappitz M, Gubina N, Volpe I, Andrade D, Westergerling P, Staudner T, Campolo J, Liu S, Dong K, Cai Y, Rehman M, Gallagher A, Ruchirawat S, Croy R, Essigmann J, Fedeles S, Somlo S. A synthetic agent ameliorates polycystic kidney disease by promoting apoptosis of cystic cells through increased oxidative stress. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2317344121. PMID: 38241440, PMCID: PMC10823221, DOI: 10.1073/pnas.2317344121.
Peer-Reviewed Original Research
MeSH Keywords and Concepts

2023

Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
Schönauer R, Sierks D, Boerrigter M, Jawaid T, Caroff L, Audrezet M, Friedrich A, Shaw M, Degenhardt J, Forberger M, de Fallois J, Bläker H, Bergmann C, Gödiker J, Schindler P, Schlevogt B, Müller R, Berg T, Patterson I, Griffiths W, Sayer J, Consortium G, Ambrose J, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred C, Brittain H, Caulfield M, Chan G, Elgar G, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard T, Jackson R, Jones L, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh S, Leong I, Lopez J, Maleady-Crowe F, McEntagart M, Minneci F, Moutsianas L, Mueller M, Murugaesu N, Need A, O’Donovan P, Odhams C, Patch C, Pereira M, Perez-Gil D, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott R, Siddiq A, Sieghart A, Smith S, Sosinsky A, Stuckey A, Tanguy M, Tavares A, Thomas E, Thompson S, Tucci A, Welland M, Williams E, Witkowska K, Wood S, Popp B, Torres V, Hogan M, Somlo S, Watnick T, Nevens F, Besse W, Gall E, Harris P, Drenth J, Halbritter J. Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease. Gastroenterology 2023, 166: 902-914. PMID: 38101549, DOI: 10.1053/j.gastro.2023.12.007.
Peer-Reviewed Original Research
Concepts
Inactivation of Ire1alpha Endoribonuclease Domain Slows Down ADPKD in Orthologous Mouse Models
Bhardwaj R, Volpe I, Yilmaz D, Pioppini C, Roy K, Rehman M, Cai Y, Krappitz M, Somlo S, Fedeles S. Inactivation of Ire1alpha Endoribonuclease Domain Slows Down ADPKD in Orthologous Mouse Models. Journal Of The American Society Of Nephrology 2023, 34: 19-19. DOI: 10.1681/asn.20233411s119b.
Peer-Reviewed Original Research
Dephosphorylation Facilitates Trafficking of Mutant Polycystin-2 to Cilia
Cai Y, Dong K, Spitzer M, Geiges L, Tian X, Krappitz M, Diggs L, Wei Z, Cordido A, Pei S, Fedeles S, Somlo S. Dephosphorylation Facilitates Trafficking of Mutant Polycystin-2 to Cilia. Journal Of The American Society Of Nephrology 2023, 34: 560-560. DOI: 10.1681/asn.20233411s1560b.
Peer-Reviewed Original Research
Corrigendum to “WCN23-1242 Genetic interaction between XBP1 and Pkd1 modulates ADPKD progression” [Kidney International Reports Volume 8, Issue 3, Supplement, March 2023, Page S250]
Krappitz M, Pioppini C, Bhardwaj R, Duygu E, Hollmann T, Somlo S, Fedeles S. Corrigendum to “WCN23-1242 Genetic interaction between XBP1 and Pkd1 modulates ADPKD progression” [Kidney International Reports Volume 8, Issue 3, Supplement, March 2023, Page S250]. Kidney International Reports 2023, 8: 2182. PMID: 37850015, PMCID: PMC10577355, DOI: 10.1016/j.ekir.2023.08.001.
Peer-Reviewed Original Research
The C-terminal tail of polycystin-1 suppresses cystic disease in a mitochondrial enzyme-dependent fashion
Onuchic L, Padovano V, Schena G, Rajendran V, Dong K, Shi X, Pandya R, Rai V, Gresko N, Ahmed O, Lam T, Wang W, Shen H, Somlo S, Caplan M. The C-terminal tail of polycystin-1 suppresses cystic disease in a mitochondrial enzyme-dependent fashion. Nature Communications 2023, 14: 1790. PMID: 36997516, PMCID: PMC10063565, DOI: 10.1038/s41467-023-37449-1.
Peer-Reviewed Original Research
MeSH Keywords and Concepts
Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease
Gulati A, Dahl N, Hartung E, Clark S, Moudgil A, Goodwin J, Somlo S. Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease. Kidney360 2023, 4: 387-392. PMID: 36706243, PMCID: PMC10103195, DOI: 10.34067/kid.0000000000000064.
Peer-Reviewed Original Research
MeSH Keywords and Concepts

2022

2021

See All Publications

Publications

2024

Efficient and selective kidney targeting by chemically modified carbohydrate conjugates

Adamts1 and Cyst Expansion in Polycystic Kidney Disease

Genetic and Clinical Characterization of Patients with ADPKD and Intracranial Aneurysms: The PKD-VASC Cohort

Ryanodine Receptor 3 (RYR3) as a Candidate Modifier of Aneurysm Formation in ADPKD

Glis3 Is a Modifier of Cyst Progression in Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Functional Studies of Polycystin-1 Using a Novel Pkd1-HaloTag Mouse

Chemical Modulation of the Ire1α-Xbp1 Pathway Reduces Cyst Size in ADPKD Mouse and Human Three-Dimensional Spheroids

Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease

Genetic Analysis of Severe Polycystic Liver Disease in Japan

A synthetic agent ameliorates polycystic kidney disease by promoting apoptosis of cystic cells through increased oxidative stress

2023

Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease

Inactivation of Ire1alpha Endoribonuclease Domain Slows Down ADPKD in Orthologous Mouse Models

Dephosphorylation Facilitates Trafficking of Mutant Polycystin-2 to Cilia

Corrigendum to “WCN23-1242 Genetic interaction between XBP1 and Pkd1 modulates ADPKD progression” [Kidney International Reports Volume 8, Issue 3, Supplement, March 2023, Page S250]

The C-terminal tail of polycystin-1 suppresses cystic disease in a mitochondrial enzyme-dependent fashion

Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease

2022

Pkd2 Re-Expression Can Reverse Liver Cysts and Improve GFR in Mouse Models of Autosomal Dominant Polycystic Kidney Disease

XBP1 Activation Reduces Severity of Polycystic Kidney Disease due to a Nontruncating Polycystin-1 Mutation in Mice

An update on ductal plate malformations and fibropolycystic diseases of the liver

Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

2021

Interdependent Regulation of Polycystin Expression Influences Starvation-Induced Autophagy and Cell Death

Renal plasticity revealed through reversal of polycystic kidney disease in mice

A polycystin-2 protein with modified channel properties leads to an increased diameter of renal tubules and to renal cysts

FC 008INTERDEPENDENT REGULATION OF POLYCYSTIN EXPRESSION INFLUENCES STARVATION-INDUCED AUTOPHAGY AND CELL DEATH

Restoration of proximal tubule flow-activated transport prevents cyst growth in polycystic kidney disease