公开(公告)号：US20150099790A1

公开(公告)日：2015-04-09

申请号：US14400274

申请日：2013-05-08

Applicant: UNIVERSITY OF UTAH RESEARCH FOUNDATION

Inventor： Jared Rutter ,  Carl Thummel ,  Daniel K. Bricker ,  Thomas Orsak

IPC: C12N15/113 ,  C12Q1/68 ,  A61K31/405

CPC classification number: A61K49/0008 ,  A61K31/405 ,  A61K49/0004 ,  C12N15/113 ,  C12N2310/14 ,  C12N2320/30 ,  C12Q1/6883 ,  C12Q2600/136 ,  C12Q2600/156 ,  C12Q2600/158 ,  G01N33/6893 ,  G01N2500/00

Abstract: Disclosed herein are methods and compositions for the diagnosis and treatment of conditions associated with aberrant pyruvate metabolism, and symptoms thereof, in a subject. Disclosed herein are methods of detecting an aberrant pyruvate metabolism-associated condition, and symptoms thereof, in a subject, by the expression level of MPC1 or MPC2. Disclosed herein are methods of detecting an aberrant pyruvate metabolism-associated condition, and symptoms thereof, in a subject, by the activity level of MPC1 or MPC2. Disclosed herein are methods of determining responsiveness to a treatment for an aberrant pyruvate metabolism associated condition, and symptoms thereof, in a subject.

Abstract translation: 本文公开了用于诊断和治疗与受试者中异常丙酮酸代谢相关的病症及其症状的方法和组合物。 本文公开了通过MPC1或MPC2的表达水平检测受试者异常丙酮酸代谢相关病症及其症状的方法。 本文公开了通过MPC1或MPC2的活性水平检测受试者异常丙酮酸代谢相关病症及其症状的方法。 本文公开了测定受试者中异常丙酮酸代谢相关病症及其症状的治疗反应性的方法。

公开(公告)号：US20160193364A1

公开(公告)日：2016-07-07

申请号：US15078872

申请日：2016-03-23

Applicant: University of Utah Research Foundation

Inventor： Jared Rutter ,  Carl Thummel ,  Daniel K. Bricker ,  Thomas Orsak

IPC: A61K49/00 ,  C12Q1/68

CPC classification number: A61K49/0008 ,  A61K31/405 ,  A61K49/0004 ,  C12N15/113 ,  C12N2310/14 ,  C12N2320/30 ,  C12Q1/6883 ,  C12Q2600/136 ,  C12Q2600/156 ,  C12Q2600/158 ,  G01N33/6893 ,  G01N2500/00

Abstract: Disclosed herein are methods and compositions for the diagnosis and treatment of conditions associated with aberrant pyruvate metabolism, and symptoms thereof, in a subject. Disclosed herein are methods of detecting an aberrant pyruvate metabolism-associated condition, and symptoms thereof, in a subject, by the expression level of MPC1 or MPC2. Disclosed herein are methods of detecting an aberrant pyruvate metabolism-associated condition, and symptoms thereof, in a subject, by the activity level of MPC1 or MPC2. Disclosed herein are methods of determining responsiveness to a treatment for an aberrant pyruvate metabolism associated condition, and symptoms thereof, in a subject.

公开(公告)号：US20230272479A1

公开(公告)日：2023-08-31

申请号：US18010580

申请日：2021-06-17

Applicant: University of Utah Research Foundation

Inventor： Jacob M. Winter ,  Jared Rutter

IPC: C12Q1/6886 ,  A61K31/69 ,  A61K38/07 ,  A61P35/00

CPC classification number: C12Q1/6886 ,  A61K31/69 ,  A61K38/07 ,  A61P35/00 ,  C12Q2600/156 ,  C12Q2600/106

Abstract: Disclosed are any of the methods or compositions herein. Disclosed are methods of treating a subject having cancer comprising administering a proteasome inhibitor to the subject having cancer, wherein the subject having cancer has a non-functional ATAD1 gene. Disclosed are methods of diagnosing and treating cancer, the method comprising: diagnosing a subject as being susceptible to treatment by a proteasome inhibitor; and administering a proteasome inhibitor to the subject.

公开(公告)号：US20220257725A1

公开(公告)日：2022-08-18

申请号：US17625514

申请日：2020-07-10

Applicant: University of Utah Research Foundation

Inventor： Esther Nuebel ,  Jared Rutter ,  Yu-Chan Chen ,  Joshua Bonkowsky

IPC: A61K38/46 ,  A61K31/197 ,  A61K31/4015 ,  A61P3/00

Abstract: Disclosed herein are compositions and methods for treating mitochondrial dysfunction. The methods can include compositions capable of increasing or overexpressing ATAD1. The methods include restoring mitochondrial respiration and ATP production. The present disclosure provides a mechanism for peroxin (peroxisomal biogenesis factors) accumulation on mitochondria that affects respiration and ATP generation.